{"id":7286,"date":"2024-02-17T10:13:15","date_gmt":"2024-02-17T10:13:15","guid":{"rendered":"https:\/\/neuropediatoolkit.org\/?p=7286"},"modified":"2026-06-22T20:07:03","modified_gmt":"2026-06-22T20:07:03","slug":"exoma-clinico-first-tier","status":"publish","type":"post","link":"https:\/\/neuropediatoolkit.org\/en\/exoma-clinico-first-tier\/","title":{"rendered":"Clinical exome, first tier?"},"content":{"rendered":"\n

La evoluci\u00f3n tecnol\u00f3gica en gen\u00f3mica tiene una velocidad muy r\u00e1pida y las gu\u00edas cl\u00ednicas se quedan obsoletas respecto a la pr\u00e1ctica cl\u00ednica habitual, de forma que los profesionales frecuentemente nos encontramos con preguntas dif\u00edciles de responder. <\/p>\n\n\n\n

Mucho ha llovido desde las gu\u00edas de la AAN de 2003, en las que se propuso como primer escal\u00f3n para el estudio del retraso global del desarrollo y los trastornos del espectro del autismo la utilizaci\u00f3n del cariotipo y el X-fragil, actualmente retiradas <\/span>, tras la revisi\u00f3n realizada en 2011 por los mismos autores <\/span>.<\/p>\n\n\n\n

Las gu\u00edas de 2012 de la academia americana de pediatr\u00eda, introdujeron por primera vez el uso sistem\u00e1tico del aCGH <\/span>. Una consecuencia no inesperada, ha sido la progresiva decadencia de las t\u00e9cnicas de citogen\u00e9tica tradicionales (cariotipo), hasta el punto de que se est\u00e1 perdiendo el \u00abknow how\u00bb, y el n\u00famero de profesionales capaces de realizar la t\u00e9cnica est\u00e1 en riesgo de extinci\u00f3n.<\/p>\n\n\n\n

Desde entonces, la aparici\u00f3n de los estudios de secuenciaci\u00f3n del exoma ha significado una revoluci\u00f3n desde el punto de vista del incremento de la rentabilidad diagn\u00f3stica (diagnostic yield). En particular, la aparici\u00f3n de sistemas bioinform\u00e1ticos de detecci\u00f3n de CNV a partir de los datos obtenidos en la secuenciaci\u00f3n del exoma, ha permitido cuestionar seriamente la utilidad de realizar un aCGH previo. <\/p>\n\n\n\n

En las \u00faltimas gu\u00edas de la ACMG de 2021, se ha analizado si el exoma deber\u00eda ser el 1\u00ba escal\u00f3n en el estudio diagn\u00f3stico de los pacientes con malformaciones cong\u00e9nitas m\u00faltiples y discapacidad intelectual, proponiendo un cambio en el paradigma actual. <\/span><\/p>\n\n\n\n

No obstante, continua existiendo discusi\u00f3n en el campo respecto a cu\u00e1l debe ser la actual secuencia de decisiones desde el punto de vista de la pr\u00e1ctica cl\u00ednica, cuestionandose t\u00edmidamente si realmente es rentable continuar realizando X-fragil a toda la poblaci\u00f3n, dada la disminuci\u00f3n de prevalencia identificada en las \u00faltimas d\u00e9cadas <\/span>. <\/p>\n\n\n\n

\r\n\t\t{19955111:USAKSNND};{19955111:W37ZUI82};{19955111:KP9ZKQPJ};{19955111:UXTQ6ZNU};{19955111:KJWQRLHH}<\/span>\r\n\t\tvancouver<\/span>\r\n\t\tdefault<\/span>\r\n\t\tasc<\/span>\r\n\t\t<\/span>\r\n\t\t<\/span>\r\n\t\t<\/span>\r\n\t\t<\/span>\r\n\t\t<\/span>\r\n\t\t<\/span>\r\n\t\t<\/span>\r\n\t\t<\/span>\r\n\t\t<\/span>\r\n\t\t0<\/span>\r\n\t\t<\/span>\r\n\t\t7286<\/span>
\n
\t\t\t\t<\/span>%7B%22status%22%3A%22success%22%2C%22updateneeded%22%3Afalse%2C%22instance%22%3Afalse%2C%22meta%22%3A%7B%22request_last%22%3A6350%2C%22request_next%22%3A50%2C%22used_cache%22%3Atrue%7D%2C%22data%22%3A%5B%7B%22key%22%3A%22IF8UV6LK%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Dharmadhikari%20et%20al.%22%2C%22parsedDate%22%3A%222026-08-19%22%2C%22numChildren%22%3A2%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BDharmadhikari%20AV%2C%20Myers%20CT%2C%20King%20KA%2C%20Mojarad%20B%2C%20Claire%20Hou%20YC%2C%20Liu%20J%2C%20et%20al.%20Current%20Status%20of%20Genetic%20Testing%20and%20Mosaic%20Variant%20Assessment%20in%20Somatic%20Overgrowth%20and%20Vascular%20Anomalies%3A%20Insights%20from%20the%20Cancer%20Genomics%20Consortium%20Working%20Group.%20Genetics%20in%20Medicine%20%5BInternet%5D.%202026%20Aug%2019%20%5Bcited%202026%20Sept%201%5D%3B102686.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttps%3A%5C%2F%5C%2Fwww.sciencedirect.com%5C%2Fscience%5C%2Farticle%5C%2Fpii%5C%2FS109836002601004X%26%23039%3B%26gt%3Bhttps%3A%5C%2F%5C%2Fwww.sciencedirect.com%5C%2Fscience%5C%2Farticle%5C%2Fpii%5C%2FS109836002601004X%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Current%20Status%20of%20Genetic%20Testing%20and%20Mosaic%20Variant%20Assessment%20in%20Somatic%20Overgrowth%20and%20Vascular%20Anomalies%3A%20Insights%20from%20the%20Cancer%20Genomics%20Consortium%20Working%20Group%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Avinash%20V.%22%2C%22lastName%22%3A%22Dharmadhikari%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Candace%20T.%22%2C%22lastName%22%3A%22Myers%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Katherine%20A.%22%2C%22lastName%22%3A%22King%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Bahareh%22%2C%22lastName%22%3A%22Mojarad%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Ying-Chen%22%2C%22lastName%22%3A%22Claire%20Hou%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Jie%22%2C%22lastName%22%3A%22Liu%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Patricia%20V.%22%2C%22lastName%22%3A%22Hernandez%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Lea%20F.%22%2C%22lastName%22%3A%22Surrey%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Kevin%20E.%22%2C%22lastName%22%3A%22Fisher%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Adrienne%22%2C%22lastName%22%3A%22Hammill%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Denise%22%2C%22lastName%22%3A%22Adams%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Cate%22%2C%22lastName%22%3A%22Paschal%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Thuy%20L.%22%2C%22lastName%22%3A%22Phung%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Catherine%22%2C%22lastName%22%3A%22Cottrell%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Yang%22%2C%22lastName%22%3A%22Cao%22%7D%5D%2C%22abstractNote%22%3A%22Somatic%20overgrowth%20and%20vascular%20anomalies%20are%20often%20present%20at%20birth%20but%20may%20only%20be%20clinically%20recognized%20later%20in%20life.%20Affected%20tissues%20commonly%20include%20veins%20and%20arteries%2C%20skin%2C%20adipose%20tissue%2C%20bone%2C%20and%20brain%2C%20resulting%20in%20a%20broad%20phenotypic%20spectrum%20encompassing%20vascular%20malformations%2C%20lipomatous%20and%20melanocytic%20nevus%20syndromes%2C%20skeletal%20abnormalities%2C%20and%20brain%20malformations.%20These%20conditions%20are%20typically%20caused%20by%20postzygotic%20variants%20present%20in%20a%20subset%20of%20cells%20due%20to%20mosaicism.%20The%20developmental%20timing%20and%20cell%20lineages%20involved%20determine%20the%20extent%20and%20distribution%20of%20affected%20tissues.%20While%20germline%20variants%20and%20their%20clinical%20consequences%20are%20well%20characterized%2C%20the%20impact%20of%20somatic%20mosaic%20variants%20remains%20less%20well%20understood.%20Because%20these%20variants%20are%20often%20absent%20or%20present%20at%20very%20low%20levels%20in%20blood%2C%20sensitive%20assays%20and%20analysis%20of%20affected%20tissues%20are%20required%20for%20detection.%20Advances%20in%20high-depth%20next-generation%20sequencing%20have%20enabled%20reliable%20identification%20of%20low-level%20mosaic%20variants%20and%20are%20central%20to%20the%20genetic%20diagnosis%20of%20these%20disorders.%20Numerous%20causative%20genes%20have%20been%20described%2C%20most%20notably%20activating%20variants%20in%20the%20PI3K%5Cu2013MTOR%20and%20RAS%5Cu2013MAPK%20pathways.%20Genetic%20testing%20provides%20diagnostic%20confirmation%2C%20informs%20prognosis%20and%20recurrence%20risk%2C%20and%20in%20some%20cases%20enables%20targeted%20therapy%2C%20such%20as%20alpelisib%20for%20PIK3CA-related%20overgrowth%20spectrum.%20However%2C%20testing%20strategies%20vary%20across%20laboratories%20in%20gene%20panel%20content%2C%20sequencing%20depth%2C%20and%20tissue%20requirements%2C%20leading%20to%20inconsistent%20diagnostic%20approaches.%20This%20review%20summarizes%20known%20causative%20genes%2C%20current%20testing%20methodologies%2C%20variant%20interpretation%20and%20reporting%20practices%2C%20major%20genomic%20alteration%20classes%20and%20recurrent%20hotspot%20variants%2C%20and%20highlights%20key%20knowledge%20gaps%20from%20clinical%20and%20laboratory%20perspectives.%22%2C%22date%22%3A%222026-08-19%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1016%5C%2Fj.gim.2026.102686%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fwww.sciencedirect.com%5C%2Fscience%5C%2Farticle%5C%2Fpii%5C%2FS109836002601004X%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%221098-3600%22%2C%22language%22%3A%22%22%2C%22collections%22%3A%5B%22RW3UYKV2%22%5D%2C%22dateModified%22%3A%222026-09-01T18%3A52%3A57Z%22%7D%7D%2C%7B%22key%22%3A%22PEVWUD5N%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Keute%20et%20al.%22%2C%22parsedDate%22%3A%222021-07%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BKeute%20M%2C%20Miller%20MT%2C%20Krishnan%20ML%2C%20Sadhwani%20A%2C%20Chamberlain%20S%2C%20Thibert%20RL%2C%20et%20al.%20Angelman%20syndrome%20genotypes%20manifest%20varying%20degrees%20of%20clinical%20severity%20and%20developmental%20impairment.%20Mol%20Psychiatry%20%5BInternet%5D.%202021%20July%20%5Bcited%202026%20Aug%2025%5D%3B26%287%29%3A3625%26%23x2013%3B33.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttps%3A%5C%2F%5C%2Fwww.nature.com%5C%2Farticles%5C%2Fs41380-020-0858-6%26%23039%3B%26gt%3Bhttps%3A%5C%2F%5C%2Fwww.nature.com%5C%2Farticles%5C%2Fs41380-020-0858-6%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Angelman%20syndrome%20genotypes%20manifest%20varying%20degrees%20of%20clinical%20severity%20and%20developmental%20impairment%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Marius%22%2C%22lastName%22%3A%22Keute%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Meghan%20T.%22%2C%22lastName%22%3A%22Miller%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Michelle%20L.%22%2C%22lastName%22%3A%22Krishnan%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Anjali%22%2C%22lastName%22%3A%22Sadhwani%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Stormy%22%2C%22lastName%22%3A%22Chamberlain%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Ronald%20L.%22%2C%22lastName%22%3A%22Thibert%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Wen-Hann%22%2C%22lastName%22%3A%22Tan%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Lynne%20M.%22%2C%22lastName%22%3A%22Bird%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Joerg%20F.%22%2C%22lastName%22%3A%22Hipp%22%7D%5D%2C%22abstractNote%22%3A%22Angelman%20Syndrome%20%28AS%29%20is%20a%20severe%20neurodevelopmental%20disorder%20due%20to%20impaired%20expression%20of%20UBE3A%20in%20neurons.%20There%20are%20several%20genetic%20mechanisms%20that%20impair%20UBE3A%20expression%2C%20but%20they%20differ%20in%20how%20neighboring%20genes%20on%20chromosome%2015%20at%2015q11%5Cu2013q13%20are%20affected.%20There%20is%20evidence%20that%20different%20genetic%20subtypes%20present%20with%20different%20clinical%20severity%2C%20but%20a%20systematic%20quantitative%20investigation%20is%20lacking.%20Here%20we%20analyze%20natural%20history%20data%20on%20a%20large%20sample%20of%20individuals%20with%20AS%20%28n%5Cu2009%3D%5Cu2009250%2C%20848%20assessments%29%2C%20including%20clinical%20scales%20that%20quantify%20development%20of%20motor%2C%20cognitive%2C%20and%20language%20skills%20%28Bayley%20Scales%20of%20Infant%20Development%2C%20Third%20Edition%3B%20Preschool%20Language%20Scale%2C%20Fourth%20Edition%29%2C%20adaptive%20behavior%20%28Vineland%20Adaptive%20Behavioral%20Scales%2C%20Second%20Edition%29%2C%20and%20AS-specific%20symptoms%20%28AS%20Clinical%20Severity%20Scale%29.%20We%20found%20that%20clinical%20severity%2C%20as%20captured%20by%20these%20scales%2C%20differs%20between%20genetic%20subtypes%3A%20individuals%20with%20UBE3A%20pathogenic%20variants%20and%20imprinting%20defects%20%28IPD%29%20are%20less%20affected%20than%20individuals%20with%20uniparental%20paternal%20disomy%20%28UPD%29%3B%20of%20those%20with%20UBE3A%20pathogenic%20variants%2C%20individuals%20with%20truncating%20mutations%20are%20more%20impaired%20than%20those%20with%20missense%20mutations.%20Individuals%20with%20a%20deletion%20that%20encompasses%20UBE3A%20and%20other%20genes%20are%20most%20impaired%2C%20but%20in%20contrast%20to%20previous%20work%2C%20we%20found%20little%20evidence%20for%20an%20influence%20of%20deletion%20length%20%28class%20I%20vs.%20II%29%20on%20severity%20of%20manifestations.%20The%20results%20of%20this%20systematic%20analysis%20highlight%20the%20relevance%20of%20genomic%20regions%20beyond%20UBE3A%20as%20contributing%20factors%20in%20the%20AS%20phenotype%2C%20and%20provide%20important%20information%20for%20the%20development%20of%20new%20therapies%20for%20AS.%20More%20generally%2C%20this%20work%20exemplifies%20how%20increasing%20genetic%20irregularities%20are%20reflected%20in%20clinical%20severity.%22%2C%22date%22%3A%222021-07%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1038%5C%2Fs41380-020-0858-6%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fwww.nature.com%5C%2Farticles%5C%2Fs41380-020-0858-6%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%221476-5578%22%2C%22language%22%3A%22en%22%2C%22collections%22%3A%5B%22DIEGGHX5%22%5D%2C%22dateModified%22%3A%222026-08-25T05%3A28%3A49Z%22%7D%7D%2C%7B%22key%22%3A%223PGSGXJ3%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Bhagwat%20and%20Sankhyan%22%2C%22parsedDate%22%3A%222021-06-02%22%2C%22numChildren%22%3A2%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BBhagwat%20C%2C%20Sankhyan%20N.%20Vitamin%20responsive%20conditions%20in%20pediatric%20neurology.%20Karnataka%20Paediatr%20J%20%5BInternet%5D.%202021%20June%202%20%5Bcited%202026%20Aug%2025%5D%3B36%281%29%3A42%26%23x2013%3B8.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttps%3A%5C%2F%5C%2Fiap-kpj.org%5C%2Fvitamin-responsive-conditions-in-pediatric-neurology%5C%2F%26%23039%3B%26gt%3Bhttps%3A%5C%2F%5C%2Fiap-kpj.org%5C%2Fvitamin-responsive-conditions-in-pediatric-neurology%5C%2F%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Vitamin%20responsive%20conditions%20in%20pediatric%20neurology%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Chandana%22%2C%22lastName%22%3A%22Bhagwat%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Naveen%22%2C%22lastName%22%3A%22Sankhyan%22%7D%5D%2C%22abstractNote%22%3A%22Vitamin%20responsive%20conditions%20can%20be%20either%20due%20to%20inherited%20defects%20in%20the%20metabolic%20pathways%20resulting%20in%20vitamin%20dependency%20or%20due%20to%20acquired%20deficiency%20states.%20Due%20to%20widespread%20malnutrition%20and%20predominantly%20vegetarian%20population%20in%20India%2C%20vitamin%20deficiency%20state%20is%20quite%20common%20and%20early%20identification%20is%20essential.%20Inherited%20defects%2C%20if%20treated%20earlier%2C%20lead%20to%20reduced%20morbidity%20and%20mortality%20and%20improvement%20in%20long-term%20neurocognitive%20outcomes.%20Various%20vitamin%20responsive%20conditions%20in%20pediatric%20neurology%20shall%20be%20discussed%20in%20this%20review.%20Infantile%20presentation%20of%20thiamine%20deficiency%20results%20in%20beriberi%2C%20and%20in%20adults%2C%20it%20leads%20to%20Wernicke%5Cu2019s%20encephalopathy%20and%20Korsakoff%20psychosis.%20Biotin%20thiamine-responsive%20basal%20ganglia%20disease%20is%20a%20defect%20of%20thiamine%20transporter%202%2C%20which%20leads%20to%20neuroregression%20and%20characteristic%20neuroimaging%20features%20of%20basal%20ganglia%20involvement%2C%20it%20responds%20to%20high%20doses%20of%20biotin%20and%20thiamine.%20Riboflavin%20is%20an%20enzyme%20involved%20in%20mitochondrial%20energy%20synthesis%20and%20is%20supplemented%20in%20various%20mitochondrial%20metabolic%20conditions.%20Brown-Vialetto-Van%20Laere%20syndrome%20is%20progressive%20pontobulbar%20palsy%20caused%20by%20defect%20in%20riboflavin%20transporters%20responsive%20to%20high%20doses%20of%20riboflavin.%20Pyridoxine%20responsive%20epilepsy%20presents%20with%20pharmacoresistant%20seizures%20in%20neonatal%20or%20early%20infantile%20age%2C%20biotinidase%20deficiency%20also%20presents%20with%20similar%20neurological%20manifestations%2C%20but%20typical%20cutaneous%20symptoms%20of%20rash%20and%20seborrheic%20dermatitis%20also%20occur.%20Both%20are%20epileptic%20encephalopathies%20and%20any%20infant%20presenting%20with%20epilepsy%20not%20responding%20to%20conventional%20AEDs%20must%20be%20given%20a%20trial%20of%20pyridoxine%2C%20biotin%2C%20and%20folinic%20acid.%20Vitamin%20B12%20responsive%20conditions%20can%20include%20deficiency%20states%2C%20such%20as%20those%20manifesting%20with%20peripheral%20neuropathy%20and%20the%20syndrome%20of%20infantile%20tremor%20syndrome%20%28developmental%20delay%20or%20regression%2C%20tremors%2C%20and%20megaloblastic%20anemia%29%20as%20well%20as%20inherited%20disorders%20of%20homocysteine%20and%20cobalamin%20metabolism.%20These%20disorders%20are%20differentiated%20on%20the%20basis%20of%20clinical%20phenotype%20and%20laboratory%20parameters%20%28serum%20B12%2C%20homocysteine%20levels%2C%20methylmalonic%20acid%20levels%2C%20etc.%29.%20Infantile%20tremor%20syndrome%20responds%20drastically%20to%20mega%20doses%20of%20Vitamin%20B12%20and%20other%20multivitamins.%20Vitamin%20E%20deficiency%20causes%20ataxia%20with%20Vitamin%20E%20deficiency%2C%20other%20vitamins%20which%20can%20neurological%20symptoms%20include%20Vitamin%20C%20%28pseudoparalysis%29%20and%20Vitamin%20K%20%28central%20nervous%20system%20bleeds%29.%20It%20is%20imperative%20for%20a%20practicing%20pediatrician%20to%20be%20well%20versed%20with%20these%20conditions%2C%20as%20these%20are%20potentially%20treatable%20conditions.%22%2C%22date%22%3A%222021%5C%2F06%5C%2F02%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.25259%5C%2FKPJ_34_2020%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fiap-kpj.org%5C%2Fvitamin-responsive-conditions-in-pediatric-neurology%5C%2F%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%220975-5152%22%2C%22language%22%3A%22en%22%2C%22collections%22%3A%5B%22DLMVVP9H%22%5D%2C%22dateModified%22%3A%222026-08-25T05%3A28%3A36Z%22%7D%7D%2C%7B%22key%22%3A%226G4Z6KAP%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Hartmann%22%2C%22parsedDate%22%3A%222023-12-01%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BHartmann%20H.%20Critical%20vitamins%20not%20to%20forget%20in%20paediatric%20neurology.%20Journal%20of%20the%20Neurological%20Sciences%20%5BInternet%5D.%202023%20Dec%201%20%5Bcited%202026%20Aug%2025%5D%3B455.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttps%3A%5C%2F%5C%2Fwww.jns-journal.com%5C%2Farticle%5C%2FS0022-510X%2823%2900392-1%5C%2Ffulltext%26%23039%3B%26gt%3Bhttps%3A%5C%2F%5C%2Fwww.jns-journal.com%5C%2Farticle%5C%2FS0022-510X%2823%2900392-1%5C%2Ffulltext%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Critical%20vitamins%20not%20to%20forget%20in%20paediatric%20neurology%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Hans%22%2C%22lastName%22%3A%22Hartmann%22%7D%5D%2C%22abstractNote%22%3A%22%22%2C%22date%22%3A%222023-12-01%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1016%5C%2Fj.jns.2023.120931%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fwww.jns-journal.com%5C%2Farticle%5C%2FS0022-510X%2823%2900392-1%5C%2Ffulltext%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%220022-510X%2C%201878-5883%22%2C%22language%22%3A%22English%22%2C%22collections%22%3A%5B%22DLMVVP9H%22%5D%2C%22dateModified%22%3A%222026-08-25T05%3A28%3A29Z%22%7D%7D%2C%7B%22key%22%3A%22BAF84WIP%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BUBC%20Neuroanatomy%20%5BInternet%5D.%20%5Bcited%202026%20July%2022%5D.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttps%3A%5C%2F%5C%2Fwww.neuroanatomy.ca%5C%2F%26%23039%3B%26gt%3Bhttps%3A%5C%2F%5C%2Fwww.neuroanatomy.ca%5C%2F%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22webpage%22%2C%22title%22%3A%22UBC%20Neuroanatomy%22%2C%22creators%22%3A%5B%5D%2C%22abstractNote%22%3A%22%22%2C%22date%22%3A%22%22%2C%22DOI%22%3A%22%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fwww.neuroanatomy.ca%5C%2F%22%2C%22language%22%3A%22%22%2C%22collections%22%3A%5B%223ERJF68F%22%5D%2C%22dateModified%22%3A%222026-07-22T22%3A05%3A42Z%22%7D%7D%2C%7B%22key%22%3A%228TFCI9MD%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22EBRAINS%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BEBRAINS.%20Human%20Brain%20Atlas%20%7C%20EBRAINS%20%5BInternet%5D.%20%5Bcited%202026%20July%2022%5D.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttps%3A%5C%2F%5C%2Febrains.eu%5C%2Fdata-tools-services%5C%2Fbrain-atlases%5C%2Fhuman-brain%26%23039%3B%26gt%3Bhttps%3A%5C%2F%5C%2Febrains.eu%5C%2Fdata-tools-services%5C%2Fbrain-atlases%5C%2Fhuman-brain%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22webpage%22%2C%22title%22%3A%22Human%20Brain%20Atlas%20%7C%20EBRAINS%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22%22%2C%22lastName%22%3A%22EBRAINS%22%7D%5D%2C%22abstractNote%22%3A%22A%20detailed%20atlas%20of%20the%20human%20brain%20that%20integrates%20information%20on%20brain%20structure%2C%20function%2C%20and%20connectivity%20across%20multiple%20modalities%20and%20spatial%5Cu2026%22%2C%22date%22%3A%22%22%2C%22DOI%22%3A%22%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Febrains.eu%5C%2Fdata-tools-services%5C%2Fbrain-atlases%5C%2Fhuman-brain%22%2C%22language%22%3A%22en%22%2C%22collections%22%3A%5B%223ERJF68F%22%5D%2C%22dateModified%22%3A%222026-07-22T22%3A05%3A19Z%22%7D%7D%2C%7B%22key%22%3A%22QHSHWH2T%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BAtlas%20of%20Functional%20Neuroanatomy%20%5BInternet%5D.%20%5Bcited%202026%20July%2022%5D.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttps%3A%5C%2F%5C%2Fwww.atlasbrain.com%5C%2F%26%23039%3B%26gt%3Bhttps%3A%5C%2F%5C%2Fwww.atlasbrain.com%5C%2F%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22webpage%22%2C%22title%22%3A%22Atlas%20of%20Functional%20Neuroanatomy%22%2C%22creators%22%3A%5B%5D%2C%22abstractNote%22%3A%22%22%2C%22date%22%3A%22%22%2C%22DOI%22%3A%22%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fwww.atlasbrain.com%5C%2F%22%2C%22language%22%3A%22%22%2C%22collections%22%3A%5B%223ERJF68F%22%5D%2C%22dateModified%22%3A%222026-07-22T22%3A05%3A16Z%22%7D%7D%2C%7B%22key%22%3A%22P9JBB9J2%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Witters%20et%20al.%22%2C%22parsedDate%22%3A%222018-04%22%2C%22numChildren%22%3A2%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BWitters%20P%2C%20Saada%20A%2C%20Honzik%20T%2C%20Tesarova%20M%2C%20Kleinle%20S%2C%20Horvath%20R%2C%20et%20al.%20Revisiting%20mitochondrial%20diagnostic%20criteria%20in%20the%20new%20era%20of%20genomics.%20Genet%20Med%20%5BInternet%5D.%202018%20Apr%20%5Bcited%202026%20July%2021%5D%3B20%284%29%3A444%26%23x2013%3B51.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttps%3A%5C%2F%5C%2Fwww.nature.com%5C%2Farticles%5C%2Fgim2017125%26%23039%3B%26gt%3Bhttps%3A%5C%2F%5C%2Fwww.nature.com%5C%2Farticles%5C%2Fgim2017125%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Revisiting%20mitochondrial%20diagnostic%20criteria%20in%20the%20new%20era%20of%20genomics%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Peter%22%2C%22lastName%22%3A%22Witters%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Ann%22%2C%22lastName%22%3A%22Saada%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Tomas%22%2C%22lastName%22%3A%22Honzik%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Marketa%22%2C%22lastName%22%3A%22Tesarova%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Stephanie%22%2C%22lastName%22%3A%22Kleinle%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Rita%22%2C%22lastName%22%3A%22Horvath%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Amy%22%2C%22lastName%22%3A%22Goldstein%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Eva%22%2C%22lastName%22%3A%22Morava%22%7D%5D%2C%22abstractNote%22%3A%22Diagnosing%20primary%20mitochondrial%20diseases%20%28MDs%29%20is%20challenging%20in%20clinical%20practice.%20The%20mitochondrial%20disease%20criteria%20%28MDC%29%20have%20been%20developed%20to%20quantify%20the%20clinical%20picture%20and%20evaluate%20the%20probability%20of%20an%20underlying%20MD%20and%20the%20need%20for%20a%20muscle%20biopsy.%20In%20this%20new%20genetic%20era%20with%20next-generation%20sequencing%20in%20routine%20practice%2C%20we%20aim%20to%20validate%20the%20diagnostic%20value%20of%20MDC.%22%2C%22date%22%3A%222018-04%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1038%5C%2Fgim.2017.125%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fwww.nature.com%5C%2Farticles%5C%2Fgim2017125%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%221530-0366%22%2C%22language%22%3A%22en%22%2C%22collections%22%3A%5B%228GVC4ES9%22%5D%2C%22dateModified%22%3A%222026-07-21T11%3A36%3A29Z%22%7D%7D%2C%7B%22key%22%3A%226WVLUE8N%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Wojcik%20et%20al.%22%2C%22parsedDate%22%3A%222023-08-03%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BWojcik%20MH%2C%20Reuter%20CM%2C%20Marwaha%20S%2C%20Mahmoud%20M%2C%20Duyzend%20MH%2C%20Barseghyan%20H%2C%20et%20al.%20Beyond%20the%20exome%3A%20What%26%23x2019%3Bs%20next%20in%20diagnostic%20testing%20for%20Mendelian%20conditions.%20The%20American%20Journal%20of%20Human%20Genetics%20%5BInternet%5D.%202023%20Aug%203%20%5Bcited%202026%20July%2021%5D%3B110%288%29%3A1229%26%23x2013%3B48.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttps%3A%5C%2F%5C%2Fwww.sciencedirect.com%5C%2Fscience%5C%2Farticle%5C%2Fpii%5C%2FS0002929723002100%26%23039%3B%26gt%3Bhttps%3A%5C%2F%5C%2Fwww.sciencedirect.com%5C%2Fscience%5C%2Farticle%5C%2Fpii%5C%2FS0002929723002100%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Beyond%20the%20exome%3A%20What%5Cu2019s%20next%20in%20diagnostic%20testing%20for%20Mendelian%20conditions%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Monica%20H.%22%2C%22lastName%22%3A%22Wojcik%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Chloe%20M.%22%2C%22lastName%22%3A%22Reuter%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Shruti%22%2C%22lastName%22%3A%22Marwaha%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Medhat%22%2C%22lastName%22%3A%22Mahmoud%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Michael%20H.%22%2C%22lastName%22%3A%22Duyzend%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Hayk%22%2C%22lastName%22%3A%22Barseghyan%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Bo%22%2C%22lastName%22%3A%22Yuan%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Philip%20M.%22%2C%22lastName%22%3A%22Boone%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Emily%20E.%22%2C%22lastName%22%3A%22Groopman%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Emmanu%5Cu00e8le%20C.%22%2C%22lastName%22%3A%22D%5Cu00e9lot%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Deepti%22%2C%22lastName%22%3A%22Jain%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Alba%22%2C%22lastName%22%3A%22Sanchis-Juan%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Siwaar%22%2C%22lastName%22%3A%22Abouhala%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Jessica%22%2C%22lastName%22%3A%22Albert%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Miguel%22%2C%22lastName%22%3A%22Almalvez%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Raquel%22%2C%22lastName%22%3A%22Alvarez%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Mutaz%22%2C%22lastName%22%3A%22Amin%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Peter%22%2C%22lastName%22%3A%22Anderson%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Swaroop%22%2C%22lastName%22%3A%22Aradhya%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Euan%22%2C%22lastName%22%3A%22Ashley%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Themistocles%22%2C%22lastName%22%3A%22Assimes%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Light%22%2C%22lastName%22%3A%22Auriga%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Christina%22%2C%22lastName%22%3A%22Austin-Tse%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Mike%22%2C%22lastName%22%3A%22Bamshad%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Hayk%22%2C%22lastName%22%3A%22Barseghyan%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Samantha%22%2C%22lastName%22%3A%22Baxter%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Sairam%22%2C%22lastName%22%3A%22Behera%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Shaghayegh%22%2C%22lastName%22%3A%22Beheshti%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Gill%22%2C%22lastName%22%3A%22Bejerano%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Seth%22%2C%22lastName%22%3A%22Berger%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Jon%22%2C%22lastName%22%3A%22Bernstein%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Sabrina%22%2C%22lastName%22%3A%22Best%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Benjamin%22%2C%22lastName%22%3A%22Blankenmeister%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Elizabeth%22%2C%22lastName%22%3A%22Blue%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Eric%22%2C%22lastName%22%3A%22Boerwinkle%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Emily%22%2C%22lastName%22%3A%22Bonkowski%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Devon%22%2C%22lastName%22%3A%22Bonner%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Philip%22%2C%22lastName%22%3A%22Boone%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Miriam%22%2C%22lastName%22%3A%22Bornhorst%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Tugce%22%2C%22lastName%22%3A%22Bozkurt-Yozgatli%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Harrison%22%2C%22lastName%22%3A%22Brand%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Kati%22%2C%22lastName%22%3A%22Buckingham%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Daniel%22%2C%22lastName%22%3A%22Calame%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Silvia%22%2C%22lastName%22%3A%22Casadei%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Lisa%22%2C%22lastName%22%3A%22Chadwick%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Clarisa%22%2C%22lastName%22%3A%22Chavez%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Ziwei%22%2C%22lastName%22%3A%22Chen%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Ivan%22%2C%22lastName%22%3A%22Chinn%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Jessica%22%2C%22lastName%22%3A%22Chong%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Zeynep%22%2C%22lastName%22%3A%22Coban-Akdemir%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Andrea%20J.%22%2C%22lastName%22%3A%22Cohen%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Sarah%22%2C%22lastName%22%3A%22Conner%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Matthew%22%2C%22lastName%22%3A%22Conomos%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Karen%22%2C%22lastName%22%3A%22Coveler%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Ya%20Allen%22%2C%22lastName%22%3A%22Cui%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Sara%22%2C%22lastName%22%3A%22Currin%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Robert%22%2C%22lastName%22%3A%22Daber%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Zain%22%2C%22lastName%22%3A%22Dardas%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Colleen%22%2C%22lastName%22%3A%22Davis%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Moez%22%2C%22lastName%22%3A%22Dawood%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Ivan%22%2C%22lastName%22%3A%22de%20Dios%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Celine%22%2C%22lastName%22%3A%22de%20Esch%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Meghan%22%2C%22lastName%22%3A%22Delaney%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Emmanu%5Cu00e8le%22%2C%22lastName%22%3A%22D%5Cu00e9lot%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Stephanie%22%2C%22lastName%22%3A%22DiTroia%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Harsha%22%2C%22lastName%22%3A%22Doddapaneni%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Haowei%22%2C%22lastName%22%3A%22Du%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Ruizhi%22%2C%22lastName%22%3A%22Duan%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Shannon%22%2C%22lastName%22%3A%22Dugan-Perez%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Nhat%22%2C%22lastName%22%3A%22Duong%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Michael%22%2C%22lastName%22%3A%22Duyzend%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Evan%22%2C%22lastName%22%3A%22Eichler%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Sara%22%2C%22lastName%22%3A%22Emami%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Jawid%22%2C%22lastName%22%3A%22Fatih%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Jamie%22%2C%22lastName%22%3A%22Fraser%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Vincent%22%2C%22lastName%22%3A%22Fusaro%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Miranda%22%2C%22lastName%22%3A%22Galey%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Vijay%22%2C%22lastName%22%3A%22Ganesh%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Kiran%22%2C%22lastName%22%3A%22Garimella%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Richard%22%2C%22lastName%22%3A%22Gibbs%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Casey%22%2C%22lastName%22%3A%22Gifford%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Amy%22%2C%22lastName%22%3A%22Ginsburg%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Pag%5Cu00e9%22%2C%22lastName%22%3A%22Goddard%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Stephanie%22%2C%22lastName%22%3A%22Gogarten%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Nikhita%22%2C%22lastName%22%3A%22Gogate%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22William%22%2C%22lastName%22%3A%22Gordon%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22John%20E.%22%2C%22lastName%22%3A%22Gorzynski%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22William%22%2C%22lastName%22%3A%22Greenleaf%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Christopher%22%2C%22lastName%22%3A%22Grochowski%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Emily%22%2C%22lastName%22%3A%22Groopman%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Rodrigo%22%2C%22lastName%22%3A%22Guarischi%20Sousa%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Sanna%22%2C%22lastName%22%3A%22Gudmundsson%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Ashima%22%2C%22lastName%22%3A%22Gulati%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Daniel%22%2C%22lastName%22%3A%22Guo%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Walker%22%2C%22lastName%22%3A%22Hale%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Stacey%22%2C%22lastName%22%3A%22Hall%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22William%22%2C%22lastName%22%3A%22Harvey%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Megan%22%2C%22lastName%22%3A%22Hawley%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Ben%22%2C%22lastName%22%3A%22Heavner%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Isabella%22%2C%22lastName%22%3A%22Herman%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Martha%22%2C%22lastName%22%3A%22Horike-Pyne%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Jianhong%22%2C%22lastName%22%3A%22Hu%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Yongqing%22%2C%22lastName%22%3A%22Huang%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22James%22%2C%22lastName%22%3A%22Hwang%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Gail%22%2C%22lastName%22%3A%22Jarvik%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Tanner%22%2C%22lastName%22%3A%22Jensen%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Shalini%22%2C%22lastName%22%3A%22Jhangiani%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22David%22%2C%22lastName%22%3A%22Jimenez-Morales%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Christopher%22%2C%22lastName%22%3A%22Jin%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Ahmed%20K.%22%2C%22lastName%22%3A%22Saad%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Amanda%22%2C%22lastName%22%3A%22Kahn-Kirby%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Jessica%22%2C%22lastName%22%3A%22Kain%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Parneet%22%2C%22lastName%22%3A%22Kaur%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Laura%22%2C%22lastName%22%3A%22Keehan%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Susan%22%2C%22lastName%22%3A%22Knoblach%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Arthur%22%2C%22lastName%22%3A%22Ko%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Jennefer%22%2C%22lastName%22%3A%22Kohler%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Anshul%22%2C%22lastName%22%3A%22Kundaje%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Soumya%22%2C%22lastName%22%3A%22Kundu%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Samuel%20M.%22%2C%22lastName%22%3A%22Lancaster%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Katie%22%2C%22lastName%22%3A%22Larsson%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Gabrielle%22%2C%22lastName%22%3A%22Lemire%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Richard%22%2C%22lastName%22%3A%22Lewis%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Wei%22%2C%22lastName%22%3A%22Li%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Yidan%22%2C%22lastName%22%3A%22Li%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Pengfei%22%2C%22lastName%22%3A%22Liu%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Jonathan%22%2C%22lastName%22%3A%22LoTempio%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22James%22%2C%22lastName%22%3A%22Lupski%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Jialan%22%2C%22lastName%22%3A%22Ma%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Daniel%22%2C%22lastName%22%3A%22MacArthur%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Medhat%22%2C%22lastName%22%3A%22Mahmoud%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Nirav%22%2C%22lastName%22%3A%22Malani%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Brian%22%2C%22lastName%22%3A%22Mangilog%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Dana%22%2C%22lastName%22%3A%22Marafi%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Sofia%22%2C%22lastName%22%3A%22Marmolejos%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Daniel%22%2C%22lastName%22%3A%22Marten%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Eva%22%2C%22lastName%22%3A%22Martinez%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Colby%22%2C%22lastName%22%3A%22Marvin%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Shruti%22%2C%22lastName%22%3A%22Marwaha%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Francesco%22%2C%22lastName%22%3A%22Kumara%20Mastrorosa%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Dena%22%2C%22lastName%22%3A%22Matalon%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Susanne%22%2C%22lastName%22%3A%22May%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Sean%22%2C%22lastName%22%3A%22McGee%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Lauren%22%2C%22lastName%22%3A%22Meador%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Heather%22%2C%22lastName%22%3A%22Mefford%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Hector%22%2C%22lastName%22%3A%22Rodrigo%20Mendez%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Alexander%22%2C%22lastName%22%3A%22Miller%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Danny%20E.%22%2C%22lastName%22%3A%22Miller%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Tadahiro%22%2C%22lastName%22%3A%22Mitani%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Stephen%22%2C%22lastName%22%3A%22Montgomery%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Hala%20Mohamed%22%2C%22lastName%22%3A%22Moussa%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Mariana%22%2C%22lastName%22%3A%22Moyses%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Chloe%22%2C%22lastName%22%3A%22Munderloh%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Donna%22%2C%22lastName%22%3A%22Muzny%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Sarah%22%2C%22lastName%22%3A%22Nelson%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Matthew%20B.%22%2C%22lastName%22%3A%22Neu%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Jonathan%22%2C%22lastName%22%3A%22Nguyen%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Thuy-mi%20P.%22%2C%22lastName%22%3A%22Nguyen%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Robert%22%2C%22lastName%22%3A%22Nussbaum%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Keith%22%2C%22lastName%22%3A%22Nykamp%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22William%22%2C%22lastName%22%3A%22O%27Callaghan%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Emily%22%2C%22lastName%22%3A%22O%27Heir%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Melanie%22%2C%22lastName%22%3A%22O%27Leary%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Jeren%22%2C%22lastName%22%3A%22Olsen%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Ikeoluwa%22%2C%22lastName%22%3A%22Osei-Owusu%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Anne%22%2C%22lastName%22%3A%22O%27Donnell-Luria%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Evin%22%2C%22lastName%22%3A%22Padhi%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Lynn%22%2C%22lastName%22%3A%22Pais%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Miao%22%2C%22lastName%22%3A%22Pan%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Piyush%22%2C%22lastName%22%3A%22Panchal%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Karynne%22%2C%22lastName%22%3A%22Patterson%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Sheryl%22%2C%22lastName%22%3A%22Payne%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Davut%22%2C%22lastName%22%3A%22Pehlivan%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Paul%22%2C%22lastName%22%3A%22Petrowski%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Alicia%22%2C%22lastName%22%3A%22Pham%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Georgia%22%2C%22lastName%22%3A%22Pitsava%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Astaria%22%2C%22lastName%22%3A%22Podesta%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Sarah%22%2C%22lastName%22%3A%22Ponce%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Jennifer%22%2C%22lastName%22%3A%22Posey%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Jaime%22%2C%22lastName%22%3A%22Prosser%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Thomas%22%2C%22lastName%22%3A%22Quertermous%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Archana%22%2C%22lastName%22%3A%22Rai%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Arun%22%2C%22lastName%22%3A%22Ramani%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Heidi%22%2C%22lastName%22%3A%22Rehm%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Chloe%22%2C%22lastName%22%3A%22Reuter%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Jason%22%2C%22lastName%22%3A%22Reuter%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Matthew%22%2C%22lastName%22%3A%22Richardson%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Andres%22%2C%22lastName%22%3A%22Rivera-Munoz%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Oriane%22%2C%22lastName%22%3A%22Rubio%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Aniko%22%2C%22lastName%22%3A%22Sabo%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Monica%22%2C%22lastName%22%3A%22Salani%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Kaitlin%22%2C%22lastName%22%3A%22Samocha%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Alba%22%2C%22lastName%22%3A%22Sanchis-Juan%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Sarah%22%2C%22lastName%22%3A%22Savage%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Stuart%22%2C%22lastName%22%3A%22Scott%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Evette%22%2C%22lastName%22%3A%22Scott%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Fritz%22%2C%22lastName%22%3A%22Sedlazeck%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Gulalai%22%2C%22lastName%22%3A%22Shah%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Ali%22%2C%22lastName%22%3A%22Shojaie%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Mugdha%22%2C%22lastName%22%3A%22Singh%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Josh%22%2C%22lastName%22%3A%22Smith%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Kevin%22%2C%22lastName%22%3A%22Smith%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Hana%22%2C%22lastName%22%3A%22Snow%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Michael%22%2C%22lastName%22%3A%22Snyder%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Kayla%22%2C%22lastName%22%3A%22Socarras%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Lea%22%2C%22lastName%22%3A%22Starita%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Brigitte%22%2C%22lastName%22%3A%22Stark%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Sarah%22%2C%22lastName%22%3A%22Stenton%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Andrew%22%2C%22lastName%22%3A%22Stergachis%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Adrienne%22%2C%22lastName%22%3A%22Stilp%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Laksshman%22%2C%22lastName%22%3A%22Sundaram%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22V.%20Reid%22%2C%22lastName%22%3A%22Sutton%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Jui-Cheng%22%2C%22lastName%22%3A%22Tai%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Michael%22%2C%22lastName%22%3A%22Talkowski%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Christina%22%2C%22lastName%22%3A%22Tise%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Catherine%22%2C%22lastName%22%3A%22Tong%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Philip%22%2C%22lastName%22%3A%22Tsao%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Rachel%22%2C%22lastName%22%3A%22Ungar%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Grace%22%2C%22lastName%22%3A%22VanNoy%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Eric%22%2C%22lastName%22%3A%22Vilain%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Isabella%22%2C%22lastName%22%3A%22Voutos%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Kim%22%2C%22lastName%22%3A%22Walker%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Ben%22%2C%22lastName%22%3A%22Weisburd%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Jeff%22%2C%22lastName%22%3A%22Weiss%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Chris%22%2C%22lastName%22%3A%22Wellington%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Ziming%22%2C%22lastName%22%3A%22Weng%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Emily%22%2C%22lastName%22%3A%22Westheimer%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Marsha%22%2C%22lastName%22%3A%22Wheeler%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Matthew%22%2C%22lastName%22%3A%22Wheeler%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Laurens%22%2C%22lastName%22%3A%22Wiel%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Michael%22%2C%22lastName%22%3A%22Wilson%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Monica%22%2C%22lastName%22%3A%22Wojcik%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Quenna%22%2C%22lastName%22%3A%22Wong%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Issac%22%2C%22lastName%22%3A%22Wong%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Changrui%22%2C%22lastName%22%3A%22Xiao%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Rachita%22%2C%22lastName%22%3A%22Yadav%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Qian%22%2C%22lastName%22%3A%22Yi%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Bo%22%2C%22lastName%22%3A%22Yuan%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Jianhua%22%2C%22lastName%22%3A%22Zhao%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Jimmy%22%2C%22lastName%22%3A%22Zhen%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Harry%22%2C%22lastName%22%3A%22Zhou%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Lea%20M.%22%2C%22lastName%22%3A%22Starita%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Michael%22%2C%22lastName%22%3A%22Talkowski%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Stephen%20B.%22%2C%22lastName%22%3A%22Montgomery%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Michael%20J.%22%2C%22lastName%22%3A%22Bamshad%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Jessica%20X.%22%2C%22lastName%22%3A%22Chong%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Matthew%20T.%22%2C%22lastName%22%3A%22Wheeler%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Seth%20I.%22%2C%22lastName%22%3A%22Berger%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Anne%22%2C%22lastName%22%3A%22O%27Donnell-Luria%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Fritz%20J.%22%2C%22lastName%22%3A%22Sedlazeck%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Danny%20E.%22%2C%22lastName%22%3A%22Miller%22%7D%5D%2C%22abstractNote%22%3A%22Despite%20advances%20in%20clinical%20genetic%20testing%2C%20including%20the%20introduction%20of%20exome%20sequencing%20%28ES%29%2C%20more%20than%2050%25%20of%20individuals%20with%20a%20suspected%20Mendelian%20condition%20lack%20a%20precise%20molecular%20diagnosis.%20Clinical%20evaluation%20is%20increasingly%20undertaken%20by%20specialists%20outside%20of%20clinical%20genetics%2C%20often%20occurring%20in%20a%20tiered%20fashion%20and%20typically%20ending%20after%20ES.%20The%20current%20diagnostic%20rate%20reflects%20multiple%20factors%2C%20including%20technical%20limitations%2C%20incomplete%20understanding%20of%20variant%20pathogenicity%2C%20missing%20genotype-phenotype%20associations%2C%20complex%20gene-environment%20interactions%2C%20and%20reporting%20differences%20between%20clinical%20labs.%20Maintaining%20a%20clear%20understanding%20of%20the%20rapidly%20evolving%20landscape%20of%20diagnostic%20tests%20beyond%20ES%2C%20and%20their%20limitations%2C%20presents%20a%20challenge%20for%20non-genetics%20professionals.%20Newer%20tests%2C%20such%20as%20short-read%20genome%20or%20RNA%20sequencing%2C%20can%20be%20challenging%20to%20order%2C%20and%20emerging%20technologies%2C%20such%20as%20optical%20genome%20mapping%20and%20long-read%20DNA%20sequencing%2C%20are%20not%20available%20clinically.%20Furthermore%2C%20there%20is%20no%20clear%20guidance%20on%20the%20next%20best%20steps%20after%20inconclusive%20evaluation.%20Here%2C%20we%20review%20why%20a%20clinical%20genetic%20evaluation%20may%20be%20negative%2C%20discuss%20questions%20to%20be%20asked%20in%20this%20setting%2C%20and%20provide%20a%20framework%20for%20further%20investigation%2C%20including%20the%20advantages%20and%20disadvantages%20of%20new%20approaches%20that%20are%20nascent%20in%20the%20clinical%20sphere.%20We%20present%20a%20guide%20for%20the%20next%20best%20steps%20after%20inconclusive%20molecular%20testing%20based%20upon%20phenotype%20and%20prior%20evaluation%2C%20including%20when%20to%20consider%20referral%20to%20research%20consortia%20focused%20on%20elucidating%20the%20underlying%20cause%20of%20rare%20unsolved%20genetic%20disorders.%22%2C%22date%22%3A%222023-08-03%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1016%5C%2Fj.ajhg.2023.06.009%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fwww.sciencedirect.com%5C%2Fscience%5C%2Farticle%5C%2Fpii%5C%2FS0002929723002100%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%220002-9297%22%2C%22language%22%3A%22%22%2C%22collections%22%3A%5B%2284TR57I6%22%5D%2C%22dateModified%22%3A%222026-07-21T11%3A31%3A14Z%22%7D%7D%2C%7B%22key%22%3A%22CNYADQ5M%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Nema%20et%20al.%22%2C%22parsedDate%22%3A%222025-10%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BNema%20S%2C%20Singhal%20R%2C%20Bharti%20PK%2C%20Nitika%20N.%20Malaria%20in%20pregnancy%20and%20its%20potential%20impact%20on%20neurodevelopment%20in%20children%3A%20a%20systematic%20review.%20Pediatr%20Res.%202025%20Oct%3B98%284%29%3A1257%26%23x2013%3B65.%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Malaria%20in%20pregnancy%20and%20its%20potential%20impact%20on%20neurodevelopment%20in%20children%3A%20a%20systematic%20review%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Shrikant%22%2C%22lastName%22%3A%22Nema%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Richa%22%2C%22lastName%22%3A%22Singhal%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Praveen%20Kumar%22%2C%22lastName%22%3A%22Bharti%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Nitika%22%2C%22lastName%22%3A%22Nitika%22%7D%5D%2C%22abstractNote%22%3A%22BACKGROUND%3A%20Malaria%20during%20pregnancy%20can%20have%20adverse%20effects%20on%20fetal%20development%2C%20but%20its%20impact%20on%20neurodevelopment%20remains%20unclear.%20Although%20some%20studies%20have%20explored%20the%20consequences%20of%20prenatal%20malaria%2C%20gaps%20persist%20due%20to%20inconsistencies%20in%20exposure%20timing%2C%20assessment%20methods%2C%20and%20study%20designs.%5CnMETHODS%3A%20This%20systematic%20review%20highlighted%20the%20gaps%20in%20six%20studies%20selected%20from%20an%20initial%20pool%20of%202029%20articles%2C%20offering%20clearer%20insights%20into%20the%20neurodevelopmental%20outcomes%20of%20prenatal%20malaria%20exposure.%5CnRESULTS%3A%20Studies%20from%20Uganda%2C%20Benin%2C%20Ghana%2C%20and%20Malawi%20show%20that%20malaria%20during%20pregnancy%20adversely%20impacts%20cognitive%2C%20motor%2C%20and%20behavioral%20development.%20Cognitive%20deficits%20were%20observed%20at%2012%20and%2024%20months%2C%20with%20some%20studies%20indicating%20long-term%20effects%20at%2036%20months.%20Motor%20development%20and%20language%20outcomes%20were%20variable%2C%20with%20language%20impairments%20linked%20to%20malaria%20acquired%20late%20in%20pregnancy.%5CnCONCLUSIONS%3A%20The%20review%20identifies%20gaps%20in%20research%2C%20such%20as%20the%20role%20of%20asymptomatic%20infections%2C%20exposure%20timing%2C%20and%20malaria%26%23039%3Bs%20interaction%20with%20maternal%20comorbidities%20like%20HIV.%20Potential%20mechanisms%20for%20neurodevelopmental%20deficits%20include%20placental%20dysfunction%20and%20inflammation%20impacting%20fetal%20brain%20development.%20However%2C%20methodological%20limitations%2C%20such%20as%20varying%20assessment%20tools%20and%20sample%20sizes%2C%20prevent%20conclusive%20evidence.%20The%20review%20calls%20for%20more%20longitudinal%20studies%20to%20understand%20the%20long-term%20effects%20of%20prenatal%20malaria%20better%20and%20guide%20interventions%20to%20improve%20child%20development%20in%20malaria-endemic%20regions.%5CnIMPACT%3A%20Prenatal%20malaria%20exposure%20is%20linked%20to%20cognitive%20deficits%2C%20with%20potential%20long-term%20effects%20on%20motor%20and%20language%20development.%20Late%20pregnancy%20malaria%20may%20have%20a%20stronger%20impact%20on%20language%20development%2C%20highlighting%20the%20importance%20of%20exposure%20timing.%20Mechanisms%20such%20as%20placental%20dysfunction%20and%20inflammation%20may%20disrupt%20fetal%20brain%20development%20and%20contribute%20to%20neurodevelopmental%20deficits.%20Future%20studies%20should%20prioritize%20longitudinal%20research%20using%20advanced%20methodologies%20to%20better%20understand%20the%20long-term%20effects%20of%20prenatal%20malaria%20exposure%20on%20neurodevelopment.%22%2C%22date%22%3A%222025-10%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1038%5C%2Fs41390-025-03967-5%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22%22%2C%22PMID%22%3A%2240033081%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%221530-0447%22%2C%22language%22%3A%22eng%22%2C%22collections%22%3A%5B%22HRX9XVKI%22%5D%2C%22dateModified%22%3A%222026-07-17T05%3A44%3A07Z%22%7D%7D%2C%7B%22key%22%3A%22QMQGB5SU%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Gressens%22%2C%22parsedDate%22%3A%222000%22%2C%22numChildren%22%3A2%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BGressens%20P.%201.%20The%20developing%20nervous%20system%3A%20A%20series%20of%20review%20articles.%20Mechanisms%20and%20disturbances%20of%20neuronal%20migration.%20Pediatric%20research%20%5BInternet%5D.%202000%20%5Bcited%202014%20June%2030%5D%3B48%286%29%3A725%26%23x2013%3B30.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttp%3A%5C%2F%5C%2Fwww.nature.com%5C%2Fpr%5C%2Fjournal%5C%2Fv48%5C%2Fn6%5C%2Fabs%5C%2Fpr2000265a.html%26%23039%3B%26gt%3Bhttp%3A%5C%2F%5C%2Fwww.nature.com%5C%2Fpr%5C%2Fjournal%5C%2Fv48%5C%2Fn6%5C%2Fabs%5C%2Fpr2000265a.html%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%221.%20The%20developing%20nervous%20system%3A%20A%20series%20of%20review%20articles.%20Mechanisms%20and%20disturbances%20of%20neuronal%20migration%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Pierre%22%2C%22lastName%22%3A%22Gressens%22%7D%5D%2C%22abstractNote%22%3A%22%22%2C%22date%22%3A%222000%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%22%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Fwww.nature.com%5C%2Fpr%5C%2Fjournal%5C%2Fv48%5C%2Fn6%5C%2Fabs%5C%2Fpr2000265a.html%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%22%22%2C%22language%22%3A%22%22%2C%22collections%22%3A%5B%2276DC896D%22%5D%2C%22dateModified%22%3A%222026-07-16T08%3A13%3A24Z%22%7D%7D%2C%7B%22key%22%3A%22NA9SQLRV%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Langley%20et%20al.%22%2C%22parsedDate%22%3A%222015%22%2C%22numChildren%22%3A2%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BLangley%20KG%2C%20Trau%20S%2C%20Bean%20LJH%2C%20Narravula%20A%2C%20Schrier%20Vergano%20SA.%20A%207-month-old%20male%20with%20Allan-Herndon-Dudley%20syndrome%20and%20the%20power%20of%20T3.%20American%20Journal%20of%20Medical%20Genetics%20Part%20A%20%5BInternet%5D.%202015%20%5Bcited%202017%20Nov%203%5D%3B167%285%29%3A1117%26%23x2013%3B20.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttp%3A%5C%2F%5C%2Fdoi.wiley.com%5C%2F10.1002%5C%2Fajmg.a.36970%26%23039%3B%26gt%3Bhttp%3A%5C%2F%5C%2Fdoi.wiley.com%5C%2F10.1002%5C%2Fajmg.a.36970%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22A%207-month-old%20male%20with%20Allan-Herndon-Dudley%20syndrome%20and%20the%20power%20of%20T3%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Katherine%20G.%22%2C%22lastName%22%3A%22Langley%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Steven%22%2C%22lastName%22%3A%22Trau%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Lora%20J.%20H.%22%2C%22lastName%22%3A%22Bean%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Alekhya%22%2C%22lastName%22%3A%22Narravula%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Samantha%20A.%22%2C%22lastName%22%3A%22Schrier%20Vergano%22%7D%5D%2C%22abstractNote%22%3A%22Allan-Herndon-Dudley%20syndrome%20%28AHDS%2C%20MIM%20300523%29%20is%20an%20X-linked%20neurodegenerative%20disorder%20characterized%20by%20intellectual%20disability%2C%20severe%20hypotonia%2C%20diminished%20muscle%20mass%2C%20and%20progressive%20spastic%20paraplegia.%20All%20affected%20males%20have%20pathognomonic%20thyroid%20profiles%20with%20an%20elevated%20T3%20%2C%20low-normal%20free%20T4%20%2C%20and%20normal%20TSH.%20Mutations%20in%20the%20monocarboxylate%20transporter%208%20%28MCT8%29%20gene%2C%20SLC16A2%2C%20have%20been%20found%20to%20be%20causative.%20Here%2C%20we%20describe%20a%20proband%20whose%20extensive%20evaluation%20and%20ultimate%20diagnosis%20of%20AHDS%20unmasked%20three%20previously%20undiagnosed%20generations%20of%20affected%20individuals%20in%20one%20family.%20This%20case%20illustrates%20the%20need%20for%20clinicians%20to%20consider%20obtaining%20full%20thyroid%20studies%20on%20individuals%20with%20the%20non-specific%20findings%20of%20severe%20hypotonia%2C%20failure%20to%20thrive%2C%20and%20gross%20motor%20delay.%22%2C%22date%22%3A%2205%5C%2F2015%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1002%5C%2Fajmg.a.36970%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Fdoi.wiley.com%5C%2F10.1002%5C%2Fajmg.a.36970%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%2215524825%22%2C%22language%22%3A%22en%22%2C%22collections%22%3A%5B%22FGD6VY74%22%5D%2C%22dateModified%22%3A%222026-07-15T23%3A42%3A04Z%22%7D%7D%2C%7B%22key%22%3A%22SZKDQM42%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Thevathasan%20and%20Gregory%22%2C%22parsedDate%22%3A%222010%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BThevathasan%20W%2C%20Gregory%20R.%20Deep%20brain%20stimulation%20for%20movement%20disorders.%20Practical%20neurology.%202010%3B10%281%29%3A16%26%23x2013%3B26.%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Deep%20brain%20stimulation%20for%20movement%20disorders%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22W.%22%2C%22lastName%22%3A%22Thevathasan%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22R.%22%2C%22lastName%22%3A%22Gregory%22%7D%5D%2C%22abstractNote%22%3A%22Deep%20brain%20stimulation%20is%20now%20considered%20a%20routine%20treatment%20option%20for%20selected%20patients%20with%20advanced%20Parkinson%26%23039%3Bs%20disease%2C%20primary%20segmental%20and%20generalised%20dystonia%2C%20and%20essential%20tremor.%20The%20neurosurgeon%20is%20responsible%20for%20the%20accurate%20and%20safe%20placement%20of%20the%20electrodes%20and%20the%20neurologist%20for%20the%20careful%20selection%20of%20patients%20and%20titration%20of%20medication%20against%20the%20effects%20of%20stimulation.%20A%20multidisciplinary%20team%20approach%20involving%20specialist%20nurses%2C%20neuropsychologists%20and%20neurophysiologists%20is%20required%20for%20a%20successful%20outcome.%20In%20this%20article%20we%20will%20summarise%20the%20key%20points%20in%20patient%20selection%2C%20provide%20an%20overview%20of%20the%20surgical%20technique%2C%20and%20discuss%20the%20beneficial%20and%20adverse%20outcomes%20that%20can%20occur.%22%2C%22date%22%3A%222010%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1136%5C%2Fjnnp.2009.200998%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%22%22%2C%22language%22%3A%22%22%2C%22collections%22%3A%5B%22VMPRS9XH%22%5D%2C%22dateModified%22%3A%222026-07-15T23%3A38%3A26Z%22%7D%7D%2C%7B%22key%22%3A%22SRMRT34I%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Tristano%22%2C%22parsedDate%22%3A%222010%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BTristano%20AG.%20Neurological%20adverse%20events%20associated%20with%20anti-tumor%20necrosis%20factor%20alpha%20treatment.%20J%20Neurol%20%5BInternet%5D.%202010%20%5Bcited%202011%20June%2029%5D%3B257%289%29%3A1421%26%23x2013%3B31.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttp%3A%5C%2F%5C%2Fwww.springerlink.com%5C%2Fcontent%5C%2F32042367g7x3l352%5C%2F%26%23039%3B%26gt%3Bhttp%3A%5C%2F%5C%2Fwww.springerlink.com%5C%2Fcontent%5C%2F32042367g7x3l352%5C%2F%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Neurological%20adverse%20events%20associated%20with%20anti-tumor%20necrosis%20factor%20alpha%20treatment%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Antonio%20G.%22%2C%22lastName%22%3A%22Tristano%22%7D%5D%2C%22abstractNote%22%3A%22Anti-tumor%20necrosis%20factor%20alpha%20%28TNF-alpha%29%20drugs%20have%20been%20successfully%20used%20for%20the%20treatment%20of%20rheumatic%20autoimmune%20diseases%20including%20rheumatoid%20arthritis%20%28RA%29%2C%20psoriatic%20arthritis%2C%20psoriasis%2C%20ankylosing%20spondylitis%20%28AS%29%2C%20juvenile%20chronic%20arthritis%2C%20and%20Crohn%26%23039%3Bs%20disease.%20However%2C%20they%20have%20been%20associated%20with%20different%20neurological%20disorders%2C%20including%20alterations%20of%20peripheral%20nerves%2C%20multiple%20sclerosis%20%28MS%29%2C%20optic%20neuritis%20%28ON%29%20and%20acute%20transverse%20myelitis%20%28ATM%29.%20This%20article%20reviews%20the%20most%20current%20aspect%20regarding%20neurological%20adverse%20events%20associated%20with%20anti-TNF-alpha%20drugs%20with%20emphasis%20on%20the%20possible%20explanations%20for%20this%20relation%20and%20the%20pathogenic%20mechanism%20of%20TNF-alpha%20in%20neurological%20disorders.%22%2C%22date%22%3A%225%5C%2F2010%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1007%5C%2Fs00415-010-5591-7%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Fwww.springerlink.com%5C%2Fcontent%5C%2F32042367g7x3l352%5C%2F%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%220340-5354%22%2C%22language%22%3A%22%22%2C%22collections%22%3A%5B%22A6JWEJET%22%5D%2C%22dateModified%22%3A%222026-07-15T23%3A37%3A57Z%22%7D%7D%2C%7B%22key%22%3A%22SHA94JEA%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Sheridan%20and%20McLaughlin%22%2C%22parsedDate%22%3A%222014-01-11%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BSheridan%20MA%2C%20McLaughlin%20KA.%20Dimensions%20of%20early%20experience%20and%20neural%20development%3A%20deprivation%20and%20threat.%20Trends%20in%20Cognitive%20Sciences%20%5BInternet%5D.%202014%20Jan%2011%20%5Bcited%202014%20Dec%207%5D%3B18%2811%29%3A580%26%23x2013%3B5.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttp%3A%5C%2F%5C%2Fwww.cell.com%5C%2Farticle%5C%2FS1364661314002022%5C%2Fabstract%26%23039%3B%26gt%3Bhttp%3A%5C%2F%5C%2Fwww.cell.com%5C%2Farticle%5C%2FS1364661314002022%5C%2Fabstract%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Dimensions%20of%20early%20experience%20and%20neural%20development%3A%20deprivation%20and%20threat%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Margaret%20A.%22%2C%22lastName%22%3A%22Sheridan%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Katie%20A.%22%2C%22lastName%22%3A%22McLaughlin%22%7D%5D%2C%22abstractNote%22%3A%22Over%20the%20past%20decade%2C%20a%20growing%20area%20of%20research%20has%20focused%20on%20adverse%20childhood%20experiences%20%28ACEs%29%20and%20their%20impacts%20on%20neural%20and%20developmental%20outcomes.%20Work%20in%20the%20field%20to-date%20has%20generally%20conceptualized%20ACEs%20in%20terms%20of%20exposure%20to%20stress%20while%20overlooking%20the%20underlying%20dimensions%20of%20environmental%20experience%20that%20may%20distinctly%20impact%20neural%20development.%20Here%2C%20we%20propose%20a%20novel%20framework%20that%20differentiates%20between%20deprivation%20%28absence%20of%20expected%20cognitive%20and%20social%20input%29%20and%20threat%20%28presence%20of%20a%20threat%20to%20one%26%23039%3Bs%20physical%20integrity%29.%20We%20draw%20support%20for%20the%20neural%20basis%20of%20this%20distinction%20from%20studies%20on%20fear%20learning%20and%20sensory%20deprivation%20in%20animals%20to%20highlight%20potential%20mechanisms%20through%20which%20experiences%20of%20threat%20and%20deprivation%20could%20affect%20neural%20structure%20and%20function%20in%20humans.%22%2C%22date%22%3A%2201%5C%2F11%5C%2F2014%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1016%5C%2Fj.tics.2014.09.001%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Fwww.cell.com%5C%2Farticle%5C%2FS1364661314002022%5C%2Fabstract%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%221364-6613%22%2C%22language%22%3A%22English%22%2C%22collections%22%3A%5B%5D%2C%22dateModified%22%3A%222026-07-15T23%3A37%3A46Z%22%7D%7D%2C%7B%22key%22%3A%22SGV3T9R4%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Lange%20et%20al.%22%2C%22parsedDate%22%3A%222014%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BLange%20KW%2C%20Hauser%20J%2C%20Lange%20KM%2C%20Makulska-Gertruda%20E%2C%20Takano%20T%2C%20Takeuchi%20Y%2C%20et%20al.%20Utility%20of%20cognitive%20neuropsychological%20assessment%20in%20attention-deficit%5C%2Fhyperactivity%20disorder.%20ADHD%20Attention%20Deficit%20and%20Hyperactivity%20Disorders%20%5BInternet%5D.%202014%20%5Bcited%202017%20Mar%2019%5D%3B6%284%29%3A241%26%23x2013%3B8.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttp%3A%5C%2F%5C%2Flink.springer.com%5C%2F10.1007%5C%2Fs12402-014-0132-3%26%23039%3B%26gt%3Bhttp%3A%5C%2F%5C%2Flink.springer.com%5C%2F10.1007%5C%2Fs12402-014-0132-3%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Utility%20of%20cognitive%20neuropsychological%20assessment%20in%20attention-deficit%5C%2Fhyperactivity%20disorder%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Klaus%20W.%22%2C%22lastName%22%3A%22Lange%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Joachim%22%2C%22lastName%22%3A%22Hauser%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Katharina%20M.%22%2C%22lastName%22%3A%22Lange%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Ewelina%22%2C%22lastName%22%3A%22Makulska-Gertruda%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Tomoyuki%22%2C%22lastName%22%3A%22Takano%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Yoshihiro%22%2C%22lastName%22%3A%22Takeuchi%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Lara%22%2C%22lastName%22%3A%22Tucha%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Oliver%22%2C%22lastName%22%3A%22Tucha%22%7D%5D%2C%22abstractNote%22%3A%22The%20present%20review%20addresses%20the%20question%20of%20whether%20and%20how%20neuropsychological%20tests%20assessing%20cognition%20in%20attention-deficit%5C%2Fhyperactivity%20disorder%20%28ADHD%29%20can%20contribute%20to%20clinical%20and%20scientific%20issues%20concerning%20ADHD.%20Neuropsychological%20studies%20have%20shown%20various%20though%20inconsistent%20cognitive%20deficits%20in%20patients%20with%20ADHD.%20While%20patients%20with%20ADHD%2C%20at%20group%20level%2C%20may%20differ%20from%20healthy%20participants%20in%20regard%20to%20cognitive%20functioning%2C%20there%20is%20no%20distinct%20psychometric%20cognitive%20test%20or%20profile%20allowing%20an%20individual%20diagnosis%20of%20ADHD%20or%20the%20identification%20of%20subtypes%20according%20to%20DSM.%20Psychometric%20neuropsychological%20tests%20may%20provide%20a%20precise%20description%20of%20the%20cognitive%20problems%20in%20individual%20patients%20and%20offer%20specific%20information%20for%20individualized%20treatment%20planning.%20In%20addition%2C%20neuropsychological%20assessment%20may%20contribute%20to%20neuroscientific%20research%20by%20providing%20endophenotypes%20or%20biological%20markers%20of%20ADHD.%20Cognitive%20neuropsychological%20assessment%20appears%20to%20be%20at%20present%20of%20limited%20clinical%20use%20and%20confined%20to%20individual%20descriptions.%22%2C%22date%22%3A%2212%5C%2F2014%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1007%5C%2Fs12402-014-0132-3%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Flink.springer.com%5C%2F10.1007%5C%2Fs12402-014-0132-3%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%221866-6116%2C%201866-6647%22%2C%22language%22%3A%22en%22%2C%22collections%22%3A%5B%224TNF88LR%22%5D%2C%22dateModified%22%3A%222026-07-15T23%3A37%3A35Z%22%7D%7D%2C%7B%22key%22%3A%22SDD2AH63%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Crow%20and%20Manel%22%2C%22parsedDate%22%3A%222015-06-05%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BCrow%20YJ%2C%20Manel%20N.%20Aicardi%26%23x2013%3BGouti%26%23xE8%3Bres%20syndrome%20and%20the%20type%20I%20interferonopathies.%20Nature%20Reviews%20Immunology%20%5BInternet%5D.%202015%20June%205%20%5Bcited%202016%20Sept%205%5D%3B15%287%29%3A429%26%23x2013%3B40.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttp%3A%5C%2F%5C%2Fwww.nature.com%5C%2Fdoifinder%5C%2F10.1038%5C%2Fnri3850%26%23039%3B%26gt%3Bhttp%3A%5C%2F%5C%2Fwww.nature.com%5C%2Fdoifinder%5C%2F10.1038%5C%2Fnri3850%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Aicardi%5Cu2013Gouti%5Cu00e8res%20syndrome%20and%20the%20type%20I%20interferonopathies%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Yanick%20J.%22%2C%22lastName%22%3A%22Crow%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Nicolas%22%2C%22lastName%22%3A%22Manel%22%7D%5D%2C%22abstractNote%22%3A%22Dissection%20of%20the%20genetic%20basis%20of%20Aicardi-Gouti%5Cu00e8res%20syndrome%20has%20highlighted%20a%20fundamental%20link%20between%20nucleic%20acid%20metabolism%2C%20innate%20immune%20sensors%20and%20type%20I%20interferon%20induction.%20This%20had%20led%20to%20the%20concept%20of%20the%20human%20interferonopathies%20as%20a%20broader%20set%20of%20Mendelian%20disorders%20in%20which%20a%20constitutive%20upregulation%20of%20type%20I%20interferon%20activity%20directly%20relates%20to%20disease%20pathology.%20Here%2C%20we%20discuss%20the%20molecular%20and%20cellular%20basis%20of%20the%20interferonopathies%2C%20their%20categorization%2C%20future%20treatment%20strategies%20and%20the%20insights%20they%20provide%20into%20normal%20physiology.%22%2C%22date%22%3A%222015-6-5%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1038%5C%2Fnri3850%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Fwww.nature.com%5C%2Fdoifinder%5C%2F10.1038%5C%2Fnri3850%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%221474-1733%2C%201474-1741%22%2C%22language%22%3A%22%22%2C%22collections%22%3A%5B%22VZ827AVK%22%5D%2C%22dateModified%22%3A%222026-07-15T23%3A37%3A21Z%22%7D%7D%2C%7B%22key%22%3A%22S2NNYWVW%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Liu%20et%20al.%22%2C%22parsedDate%22%3A%222011-09-16%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BLiu%20P%2C%20Erez%20A%2C%20Nagamani%20SCS%2C%20Dhar%20SU%2C%20Ko%26%23x142%3Bodziejska%20KE%2C%20Dharmadhikari%20AV%2C%20et%20al.%20Chromosome%20Catastrophes%20Involve%20Replication%20Mechanisms%20Generating%20Complex%20Genomic%20Rearrangements.%20Cell%20%5BInternet%5D.%202011%20Sept%2016%20%5Bcited%202023%20Mar%2012%5D%3B146%286%29%3A889%26%23x2013%3B903.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttps%3A%5C%2F%5C%2Fwww.cell.com%5C%2Fcell%5C%2Fabstract%5C%2FS0092-8674%2811%2900885-3%26%23039%3B%26gt%3Bhttps%3A%5C%2F%5C%2Fwww.cell.com%5C%2Fcell%5C%2Fabstract%5C%2FS0092-8674%2811%2900885-3%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Chromosome%20Catastrophes%20Involve%20Replication%20Mechanisms%20Generating%20Complex%20Genomic%20Rearrangements%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Pengfei%22%2C%22lastName%22%3A%22Liu%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Ayelet%22%2C%22lastName%22%3A%22Erez%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Sandesh%20C.%20Sreenath%22%2C%22lastName%22%3A%22Nagamani%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Shweta%20U.%22%2C%22lastName%22%3A%22Dhar%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Katarzyna%20E.%22%2C%22lastName%22%3A%22Ko%5Cu0142odziejska%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Avinash%20V.%22%2C%22lastName%22%3A%22Dharmadhikari%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22M.%20Lance%22%2C%22lastName%22%3A%22Cooper%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Joanna%22%2C%22lastName%22%3A%22Wiszniewska%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Feng%22%2C%22lastName%22%3A%22Zhang%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Marjorie%20A.%22%2C%22lastName%22%3A%22Withers%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Carlos%20A.%22%2C%22lastName%22%3A%22Bacino%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Luis%20Daniel%22%2C%22lastName%22%3A%22Campos-Acevedo%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Mauricio%20R.%22%2C%22lastName%22%3A%22Delgado%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Debra%22%2C%22lastName%22%3A%22Freedenberg%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Adolfo%22%2C%22lastName%22%3A%22Garnica%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Theresa%20A.%22%2C%22lastName%22%3A%22Grebe%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Dolores%22%2C%22lastName%22%3A%22Hern%5Cu00e1ndez-Almaguer%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22LaDonna%22%2C%22lastName%22%3A%22Immken%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Seema%20R.%22%2C%22lastName%22%3A%22Lalani%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Scott%20D.%22%2C%22lastName%22%3A%22McLean%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Hope%22%2C%22lastName%22%3A%22Northrup%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Fernando%22%2C%22lastName%22%3A%22Scaglia%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Lane%22%2C%22lastName%22%3A%22Strathearn%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Pamela%22%2C%22lastName%22%3A%22Trapane%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Sung-Hae%20L.%22%2C%22lastName%22%3A%22Kang%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Ankita%22%2C%22lastName%22%3A%22Patel%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Sau%20Wai%22%2C%22lastName%22%3A%22Cheung%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22P.%20J.%22%2C%22lastName%22%3A%22Hastings%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Pawe%5Cu0142%22%2C%22lastName%22%3A%22Stankiewicz%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22James%20R.%22%2C%22lastName%22%3A%22Lupski%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Weimin%22%2C%22lastName%22%3A%22Bi%22%7D%5D%2C%22abstractNote%22%3A%22SUMMARY%20Complex%20genomic%20rearrangements%20%28CGR%29%20consisting%20of%20two%20or%20more%20breakpoint%20junctions%20have%20been%20observed%20in%20genomic%20disorders.%20Recently%2C%20a%20chromosome%20catastrophe%20phenomenon%20termed%20chromothripsis%2C%20in%20which%20numerous%20genomic%20rearrangements%20are%20apparently%20acquired%20in%20one%20single%20catastrophic%20event%2C%20was%20described%20in%20multiple%20cancers.%20Here%20we%20show%20that%20constitutionally%20acquired%20CGRs%20share%20similarities%20with%20cancer%20chromothripsis.%20In%20the%2017%20CGR%20cases%20investigated%20we%20observed%20localization%20and%20multiple%20copy%20number%20changes%20including%20deletions%2C%20duplications%20and%5C%2For%20triplications%2C%20as%20well%20as%20extensive%20translocations%20and%20inversions.%20Genomic%20rearrangements%20involved%20varied%20in%20size%20and%20complexities%3B%20in%20one%20case%2C%20array%20comparative%20genomic%20hybridization%20revealed%2018%20copy%20number%20changes.%20Breakpoint%20sequencing%20identified%20characteristic%20features%2C%20including%20small%20templated%20insertions%20at%20breakpoints%20and%20microhomology%20at%20breakpoint%20junctions%2C%20which%20have%20been%20attributed%20to%20replicative%20processes.%20The%20resemblance%20between%20CGR%20and%20chromothripsis%20suggests%20similar%20mechanistic%20underpinnings.%20Such%20chromosome%20catastrophic%20events%20appear%20to%20reflect%20basic%20DNA%20metabolism%20operative%20throughout%20an%20organism%5Cu2019s%20life%20cycle.%22%2C%22date%22%3A%222011-09-16%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1016%5C%2Fj.cell.2011.07.042%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fwww.cell.com%5C%2Fcell%5C%2Fabstract%5C%2FS0092-8674%2811%2900885-3%22%2C%22PMID%22%3A%2221925314%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%220092-8674%2C%201097-4172%22%2C%22language%22%3A%22English%22%2C%22collections%22%3A%5B%223R7HGPJK%22%5D%2C%22dateModified%22%3A%222026-07-15T23%3A36%3A32Z%22%7D%7D%2C%7B%22key%22%3A%22S37ETKI4%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Hamdan%20et%20al.%22%2C%22parsedDate%22%3A%222017-11-02%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BHamdan%20FF%2C%20Myers%20CT%2C%20Cossette%20P%2C%20Lemay%20P%2C%20Spiegelman%20D%2C%20Laporte%20AD%2C%20et%20al.%20High%20Rate%20of%20Recurrent%20De%20Novo%20Mutations%20in%20Developmental%20and%20Epileptic%20Encephalopathies.%20The%20American%20Journal%20of%20Human%20Genetics%20%5BInternet%5D.%202017%20Nov%202%20%5Bcited%202020%20Jan%2011%5D%3B101%285%29%3A664%26%23x2013%3B85.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttps%3A%5C%2F%5C%2Fwww.cell.com%5C%2Fajhg%5C%2Fabstract%5C%2FS0002-9297%2817%2930377-4%26%23039%3B%26gt%3Bhttps%3A%5C%2F%5C%2Fwww.cell.com%5C%2Fajhg%5C%2Fabstract%5C%2FS0002-9297%2817%2930377-4%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22High%20Rate%20of%20Recurrent%20De%20Novo%20Mutations%20in%20Developmental%20and%20Epileptic%20Encephalopathies%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Fadi%20F.%22%2C%22lastName%22%3A%22Hamdan%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Candace%20T.%22%2C%22lastName%22%3A%22Myers%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Patrick%22%2C%22lastName%22%3A%22Cossette%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Philippe%22%2C%22lastName%22%3A%22Lemay%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Dan%22%2C%22lastName%22%3A%22Spiegelman%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Alexandre%20Dionne%22%2C%22lastName%22%3A%22Laporte%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Christina%22%2C%22lastName%22%3A%22Nassif%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Ousmane%22%2C%22lastName%22%3A%22Diallo%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Jean%22%2C%22lastName%22%3A%22Monlong%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Maxime%22%2C%22lastName%22%3A%22Cadieux-Dion%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Sylvia%22%2C%22lastName%22%3A%22Dobrzeniecka%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Caroline%22%2C%22lastName%22%3A%22Meloche%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Kyle%22%2C%22lastName%22%3A%22Retterer%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Megan%20T.%22%2C%22lastName%22%3A%22Cho%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Jill%20A.%22%2C%22lastName%22%3A%22Rosenfeld%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Weimin%22%2C%22lastName%22%3A%22Bi%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Christine%22%2C%22lastName%22%3A%22Massicotte%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Marguerite%22%2C%22lastName%22%3A%22Miguet%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Ledia%22%2C%22lastName%22%3A%22Brunga%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Brigid%20M.%22%2C%22lastName%22%3A%22Regan%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Kelly%22%2C%22lastName%22%3A%22Mo%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Cory%22%2C%22lastName%22%3A%22Tam%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Amy%22%2C%22lastName%22%3A%22Schneider%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Georgie%22%2C%22lastName%22%3A%22Hollingsworth%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22David%20R.%22%2C%22lastName%22%3A%22FitzPatrick%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Alan%22%2C%22lastName%22%3A%22Donaldson%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Natalie%22%2C%22lastName%22%3A%22Canham%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Edward%22%2C%22lastName%22%3A%22Blair%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Bronwyn%22%2C%22lastName%22%3A%22Kerr%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Andrew%20E.%22%2C%22lastName%22%3A%22Fry%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Rhys%20H.%22%2C%22lastName%22%3A%22Thomas%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Joss%22%2C%22lastName%22%3A%22Shelagh%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Jane%20A.%22%2C%22lastName%22%3A%22Hurst%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Helen%22%2C%22lastName%22%3A%22Brittain%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Moira%22%2C%22lastName%22%3A%22Blyth%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Robert%20Roger%22%2C%22lastName%22%3A%22Lebel%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Erica%20H.%22%2C%22lastName%22%3A%22Gerkes%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Laura%22%2C%22lastName%22%3A%22Davis-Keppen%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Quinn%22%2C%22lastName%22%3A%22Stein%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Wendy%20K.%22%2C%22lastName%22%3A%22Chung%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Sara%20J.%22%2C%22lastName%22%3A%22Dorison%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Paul%20J.%22%2C%22lastName%22%3A%22Benke%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Emily%22%2C%22lastName%22%3A%22Fassi%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Nicole%22%2C%22lastName%22%3A%22Corsten-Janssen%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Erik-Jan%22%2C%22lastName%22%3A%22Kamsteeg%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Frederic%20T.%22%2C%22lastName%22%3A%22Mau-Them%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Ange-Line%22%2C%22lastName%22%3A%22Bruel%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Alain%22%2C%22lastName%22%3A%22Verloes%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Katrin%22%2C%22lastName%22%3A%22%5Cu00d5unap%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Monica%20H.%22%2C%22lastName%22%3A%22Wojcik%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Dara%20V.%20F.%22%2C%22lastName%22%3A%22Albert%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Sunita%22%2C%22lastName%22%3A%22Venkateswaran%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Tyson%22%2C%22lastName%22%3A%22Ware%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Dean%22%2C%22lastName%22%3A%22Jones%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Yu-Chi%22%2C%22lastName%22%3A%22Liu%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Shekeeb%20S.%22%2C%22lastName%22%3A%22Mohammad%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Peyman%22%2C%22lastName%22%3A%22Bizargity%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Carlos%20A.%22%2C%22lastName%22%3A%22Bacino%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Vincenzo%22%2C%22lastName%22%3A%22Leuzzi%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Simone%22%2C%22lastName%22%3A%22Martinelli%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Bruno%22%2C%22lastName%22%3A%22Dallapiccola%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Marco%22%2C%22lastName%22%3A%22Tartaglia%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Lubov%22%2C%22lastName%22%3A%22Blumkin%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Klaas%20J.%22%2C%22lastName%22%3A%22Wierenga%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Gabriela%22%2C%22lastName%22%3A%22Purcarin%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22James%20J.%22%2C%22lastName%22%3A%22O%5Cu2019Byrne%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Sylvia%22%2C%22lastName%22%3A%22Stockler%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Anna%22%2C%22lastName%22%3A%22Lehman%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Boris%22%2C%22lastName%22%3A%22Keren%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Marie-Christine%22%2C%22lastName%22%3A%22Nougues%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Cyril%22%2C%22lastName%22%3A%22Mignot%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22St%5Cu00e9phane%22%2C%22lastName%22%3A%22Auvin%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Caroline%22%2C%22lastName%22%3A%22Nava%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Susan%20M.%22%2C%22lastName%22%3A%22Hiatt%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Martina%22%2C%22lastName%22%3A%22Bebin%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Yunru%22%2C%22lastName%22%3A%22Shao%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Fernando%22%2C%22lastName%22%3A%22Scaglia%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Seema%20R.%22%2C%22lastName%22%3A%22Lalani%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Richard%20E.%22%2C%22lastName%22%3A%22Frye%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Imad%20T.%22%2C%22lastName%22%3A%22Jarjour%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22St%5Cu00e9phanie%22%2C%22lastName%22%3A%22Jacques%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Renee-Myriam%22%2C%22lastName%22%3A%22Boucher%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Emilie%22%2C%22lastName%22%3A%22Riou%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Myriam%22%2C%22lastName%22%3A%22Srour%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Lionel%22%2C%22lastName%22%3A%22Carmant%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Anne%22%2C%22lastName%22%3A%22Lortie%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Philippe%22%2C%22lastName%22%3A%22Major%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Paola%22%2C%22lastName%22%3A%22Diadori%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Fran%5Cu00e7ois%22%2C%22lastName%22%3A%22Dubeau%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Guy%22%2C%22lastName%22%3A%22D%5Cu2019Anjou%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Guillaume%22%2C%22lastName%22%3A%22Bourque%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Samuel%20F.%22%2C%22lastName%22%3A%22Berkovic%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Lynette%20G.%22%2C%22lastName%22%3A%22Sadleir%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Philippe%20M.%22%2C%22lastName%22%3A%22Campeau%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Zoha%22%2C%22lastName%22%3A%22Kibar%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Ronald%20G.%22%2C%22lastName%22%3A%22Lafreni%5Cu00e8re%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Simon%20L.%22%2C%22lastName%22%3A%22Girard%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Saadet%22%2C%22lastName%22%3A%22Mercimek-Mahmutoglu%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Cyrus%22%2C%22lastName%22%3A%22Boelman%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Guy%20A.%22%2C%22lastName%22%3A%22Rouleau%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Ingrid%20E.%22%2C%22lastName%22%3A%22Scheffer%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Heather%20C.%22%2C%22lastName%22%3A%22Mefford%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Danielle%20M.%22%2C%22lastName%22%3A%22Andrade%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Elsa%22%2C%22lastName%22%3A%22Rossignol%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Berge%20A.%22%2C%22lastName%22%3A%22Minassian%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Jacques%20L.%22%2C%22lastName%22%3A%22Michaud%22%7D%5D%2C%22abstractNote%22%3A%22Developmental%20and%20epileptic%20encephalopathy%20%28DEE%29%20is%20a%20group%20of%20conditions%20characterized%20by%20the%20co-occurrence%20of%20epilepsy%20and%20intellectual%20disability%20%28ID%29%2C%20typically%20with%20developmental%20plateauing%20or%20regression%20associated%20with%20frequent%20epileptiform%20activity.%20The%20cause%20of%20DEE%20remains%20unknown%20in%20the%20majority%20of%20cases.%20We%20performed%20whole-genome%20sequencing%20%28WGS%29%20in%20197%20individuals%20with%20unexplained%20DEE%20and%20pharmaco-resistant%20seizures%20and%20in%20their%20unaffected%20parents.%20We%20focused%20our%20attention%20on%20de%20novo%20mutations%20%28DNMs%29%20and%20identified%20candidate%20genes%20containing%20such%20variants.%20We%20sought%20to%20identify%20additional%20subjects%20with%20DNMs%20in%20these%20genes%20by%20performing%20targeted%20sequencing%20in%20another%20series%20of%20individuals%20with%20DEE%20and%20by%20mining%20various%20sequencing%20datasets.%20We%20also%20performed%20meta-analyses%20to%20document%20enrichment%20of%20DNMs%20in%20candidate%20genes%20by%20leveraging%20our%20WGS%20dataset%20with%20those%20of%20several%20DEE%20and%20ID%20series.%20By%20combining%20these%20strategies%2C%20we%20were%20able%20to%20provide%20a%20causal%20link%20between%20DEE%20and%20the%20following%20genes%3A%20NTRK2%2C%20GABRB2%2C%20CLTC%2C%20DHDDS%2C%20NUS1%2C%20RAB11A%2C%20GABBR2%2C%20and%20SNAP25.%20Overall%2C%20we%20established%20a%20molecular%20diagnosis%20in%2063%5C%2F197%20%2832%25%29%20individuals%20in%20our%20WGS%20series.%20The%20main%20cause%20of%20DEE%20in%20these%20individuals%20was%20de%20novo%20point%20mutations%20%2853%5C%2F63%20solved%20cases%29%2C%20followed%20by%20inherited%20mutations%20%286%5C%2F63%20solved%20cases%29%20and%20de%20novo%20CNVs%20%284%5C%2F63%20solved%20cases%29.%20De%20novo%20missense%20variants%20explained%20a%20larger%20proportion%20of%20individuals%20in%20our%20series%20than%20in%20other%20series%20that%20were%20primarily%20ascertained%20because%20of%20ID.%20Moreover%2C%20these%20DNMs%20were%20more%20frequently%20recurrent%20than%20those%20identified%20in%20ID%20series.%20These%20observations%20indicate%20that%20the%20genetic%20landscape%20of%20DEE%20might%20be%20different%20from%20that%20of%20ID%20without%20epilepsy.%22%2C%22date%22%3A%222017-11-02%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1016%5C%2Fj.ajhg.2017.09.008%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fwww.cell.com%5C%2Fajhg%5C%2Fabstract%5C%2FS0002-9297%2817%2930377-4%22%2C%22PMID%22%3A%2229100083%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%220002-9297%2C%201537-6605%22%2C%22language%22%3A%22English%22%2C%22collections%22%3A%5B%22FXKK8Z46%22%5D%2C%22dateModified%22%3A%222026-07-15T23%3A36%3A31Z%22%7D%7D%2C%7B%22key%22%3A%22RV5CXZZA%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Ellis%20and%20Turk-Browne%22%2C%22parsedDate%22%3A%222018%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BEllis%20CT%2C%20Turk-Browne%20NB.%20Infant%20fMRI%3A%20A%20Model%20System%20for%20Cognitive%20Neuroscience.%20Trends%20in%20Cognitive%20Sciences%20%5BInternet%5D.%202018%20%5Bcited%202018%20July%209%5D%3B22%285%29%3A375%26%23x2013%3B87.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttp%3A%5C%2F%5C%2Flinkinghub.elsevier.com%5C%2Fretrieve%5C%2Fpii%5C%2FS1364661318300184%26%23039%3B%26gt%3Bhttp%3A%5C%2F%5C%2Flinkinghub.elsevier.com%5C%2Fretrieve%5C%2Fpii%5C%2FS1364661318300184%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Infant%20fMRI%3A%20A%20Model%20System%20for%20Cognitive%20Neuroscience%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Cameron%20T.%22%2C%22lastName%22%3A%22Ellis%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Nicholas%20B.%22%2C%22lastName%22%3A%22Turk-Browne%22%7D%5D%2C%22abstractNote%22%3A%22Our%20understanding%20of%20the%20typical%20human%20brain%20has%20benefitted%20greatly%20from%20studying%20different%20kinds%20of%20brains%20and%20their%20associated%20behavioral%20repertoires%2C%20including%20animal%20models%20and%20neuropsychological%20patients.%20This%20same%20comparative%20perspective%20can%20be%20applied%20to%20early%20development%20%5Cu2014%20the%20environment%2C%20behavior%2C%20and%20brains%20of%20infants%20provide%20a%20model%20system%20for%20understanding%20how%20the%20mature%20brain%20works.%20This%20approach%20requires%20non-invasive%20methods%20for%20measuring%20brain%20function%20in%20awake%2C%20behaving%20infants.%20fMRI%20is%20becoming%20increasingly%20viable%20for%20this%20purpose%2C%20with%20the%20unique%20ability%20to%20precisely%20measure%20the%20entire%20brain%2C%20including%20both%20cortical%20and%20subcortical%20structures.%20Here%20we%20discuss%20potential%20lessons%20from%20infant%20fMRI%20for%20several%20domains%20of%20adult%20cognition%20and%20consider%20the%20challenges%20of%20conducting%20such%20research%20and%20how%20they%20might%20be%20mitigated.%22%2C%22date%22%3A%2205%5C%2F2018%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1016%5C%2Fj.tics.2018.01.005%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Flinkinghub.elsevier.com%5C%2Fretrieve%5C%2Fpii%5C%2FS1364661318300184%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%2213646613%22%2C%22language%22%3A%22en%22%2C%22collections%22%3A%5B%22RK9QSW64%22%5D%2C%22dateModified%22%3A%222026-07-15T23%3A36%3A17Z%22%7D%7D%2C%7B%22key%22%3A%22RPE4AEJH%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Jackson%20et%20al.%22%2C%22parsedDate%22%3A%222012%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BJackson%20JR%2C%20Eaton%20WW%2C%20Cascella%20NG%2C%20Fasano%20A%2C%20Kelly%20DL.%20Neurologic%20and%20Psychiatric%20Manifestations%20of%20Celiac%20Disease%20and%20Gluten%20Sensitivity.%20Psychiatric%20Quarterly%20%5BInternet%5D.%202012%20%5Bcited%202014%20Aug%2029%5D%3B83%281%29%3A91%26%23x2013%3B102.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttp%3A%5C%2F%5C%2Flink.springer.com%5C%2F10.1007%5C%2Fs11126-011-9186-y%26%23039%3B%26gt%3Bhttp%3A%5C%2F%5C%2Flink.springer.com%5C%2F10.1007%5C%2Fs11126-011-9186-y%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Neurologic%20and%20Psychiatric%20Manifestations%20of%20Celiac%20Disease%20and%20Gluten%20Sensitivity%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Jessica%20R.%22%2C%22lastName%22%3A%22Jackson%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22William%20W.%22%2C%22lastName%22%3A%22Eaton%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Nicola%20G.%22%2C%22lastName%22%3A%22Cascella%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Alessio%22%2C%22lastName%22%3A%22Fasano%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Deanna%20L.%22%2C%22lastName%22%3A%22Kelly%22%7D%5D%2C%22abstractNote%22%3A%22Celiac%20Disease%20%28CD%29%20is%20an%20immune-mediated%20disease%20dependent%20on%20gluten%20%28a%20protein%20present%20in%20wheat%2C%20rye%20or%20barley%29%20that%20occurs%20in%20about%201%25%20of%20the%20population%20and%20is%20generally%20characterized%20by%20gastrointestinal%20complaints.%20More%20recently%20the%20understanding%20and%20knowledge%20of%20gluten%20sensitivity%20%28GS%29%2C%20has%20emerged%20as%20an%20illness%20distinct%20from%20celiac%20disease%20with%20an%20estimated%20prevalence%206%20times%20that%20of%20CD.%20Gluten%20sensitive%20people%20do%20not%20have%20villous%20atrophy%20or%20antibodies%20that%20are%20present%20in%20celiac%20disease%2C%20but%20rather%20they%20can%20test%20positive%20for%20antibodies%20to%20gliadin.%20Both%20CD%20and%20GS%20may%20present%20with%20a%20variety%20of%20neurologic%20and%20psychiatric%20co-morbidities%2C%20however%2C%20extraintestinal%20symptoms%20may%20be%20the%20prime%20presentation%20in%20those%20with%20GS.%20However%2C%20gluten%20sensitivity%20remains%20undertreated%20and%20underrecognized%20as%20a%20contributing%20factor%20to%20psychiatric%20and%20neurologic%20manifestiations.%20This%20review%20focuses%20on%20neurologic%20and%20psychiatric%20manifestations%20implicated%20with%20gluten%20sensitivity%2C%20reviews%20the%20emergence%20of%20gluten%20sensitivity%20distinct%20from%20celiac%20disease%2C%20and%20summarizes%20the%20potential%20mechanisms%20related%20to%20this%20immune%20reaction.%22%2C%22date%22%3A%223%5C%2F2012%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1007%5C%2Fs11126-011-9186-y%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Flink.springer.com%5C%2F10.1007%5C%2Fs11126-011-9186-y%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%220033-2720%2C%201573-6709%22%2C%22language%22%3A%22en%22%2C%22collections%22%3A%5B%22E8PT3DWU%22%5D%2C%22dateModified%22%3A%222026-07-15T23%3A35%3A50Z%22%7D%7D%2C%7B%22key%22%3A%22RGXIHUT8%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Rimkus%20et%20al.%22%2C%22parsedDate%22%3A%222014%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BRimkus%20C%20de%20M%2C%20Andrade%20CS%2C%20Leite%20C%20da%20C%2C%20McKinney%20AM%2C%20Lucato%20LT.%20Toxic%20Leukoencephalopathies%2C%20Including%20Drug%2C%20Medication%2C%20Environmental%2C%20and%20Radiation-Induced%20Encephalopathic%20Syndromes.%20Seminars%20in%20Ultrasound%2C%20CT%20and%20MRI%20%5BInternet%5D.%202014%20%5Bcited%202018%20Jan%2013%5D%3B35%282%29%3A97%26%23x2013%3B117.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttp%3A%5C%2F%5C%2Flinkinghub.elsevier.com%5C%2Fretrieve%5C%2Fpii%5C%2FS0887217113000863%26%23039%3B%26gt%3Bhttp%3A%5C%2F%5C%2Flinkinghub.elsevier.com%5C%2Fretrieve%5C%2Fpii%5C%2FS0887217113000863%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Toxic%20Leukoencephalopathies%2C%20Including%20Drug%2C%20Medication%2C%20Environmental%2C%20and%20Radiation-Induced%20Encephalopathic%20Syndromes%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Carolina%20de%20Medeiros%22%2C%22lastName%22%3A%22Rimkus%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Celi%20Santos%22%2C%22lastName%22%3A%22Andrade%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Claudia%20da%20Costa%22%2C%22lastName%22%3A%22Leite%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Alexander%20M.%22%2C%22lastName%22%3A%22McKinney%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Leandro%20Tavares%22%2C%22lastName%22%3A%22Lucato%22%7D%5D%2C%22abstractNote%22%3A%22Toxic%20leukoencephalopathies%20can%20be%20secondary%20to%20the%20exposure%20to%20a%20wide%20variety%20of%20exogenous%20agents%2C%20including%20cranial%20irradiation%2C%20chemotherapy%2C%20antiepileptic%20agents%2C%20drugs%20of%20abuse%2C%20and%20environmental%20toxins.%20There%20is%20no%20typical%20clinical%20picture%2C%20and%20patients%20can%20present%20with%20a%20wide%20array%20of%20signs%20and%20symptoms.%20Involvement%20of%20white%20matter%20is%20a%20key%20finding%20in%20this%20scenario%2C%20although%20in%20some%20circumstances%20other%20high%20metabolic%20areas%20of%20the%20central%20nervous%20system%20can%20also%20be%20affected.%20Magnetic%20resonance%20%28MR%29%20imaging%20usually%20discloses%20bilateral%20and%20symmetric%20white%20matter%20areas%20of%20hyperintense%20signal%20on%20T2-weighted%20and%20fluid-attenuated%20inversion%20recovery%20images%2C%20and%20signs%20of%20restricted%20diffusion%20are%20associated%20in%20the%20acute%20stage.%20In%20most%20cases%2C%20the%20changes%20are%20reversible%2C%20especially%20with%20prompt%20recognition%20of%20the%20disease%20and%20discontinuation%20of%20the%20noxious%20agent.%20Either%20the%20MR%20or%20clinical%20features%20may%20be%20similar%20to%20several%20nontoxic%20entities%2C%20such%20as%20demyelinating%20diseases%2C%20leukodystrophies%2C%20hepatic%20encephalopathy%2C%20vascular%20disease%2C%20hypoxic-ischemic%20states%2C%20and%20others.%20A%20high%20index%20of%20suspicion%20should%20be%20maintained%20whenever%20a%20patient%20presents%20recent%20onset%20of%20neurologic%20deficit%2C%20searching%20the%20risk%20of%20exposure%20to%20a%20neurotoxic%20agent.%20Getting%20to%20know%20the%20most%20frequent%20MR%20appearances%20and%20mechanisms%20of%20action%20of%20causative%20agents%20may%20help%20to%20make%20an%20early%20diagnosis%20and%20begin%20therapy%2C%20improving%20outcome.%20In%20this%20review%2C%20some%20of%20the%20most%20important%20causes%20of%20leukoencephalopathies%20are%20presented%3B%20as%20well%20as%20other%202%20related%20conditions%3A%20strokelike%20migraine%20attacks%20after%20radiation%20therapy%20syndrome%20and%20reversible%20splenial%20lesions.%22%2C%22date%22%3A%2204%5C%2F2014%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1053%5C%2Fj.sult.2013.09.005%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Flinkinghub.elsevier.com%5C%2Fretrieve%5C%2Fpii%5C%2FS0887217113000863%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%2208872171%22%2C%22language%22%3A%22en%22%2C%22collections%22%3A%5B%22C98WWB9B%22%5D%2C%22dateModified%22%3A%222026-07-15T23%3A35%3A24Z%22%7D%7D%2C%7B%22key%22%3A%22REBCDXX8%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Aldaz%20et%20al.%22%2C%22parsedDate%22%3A%222011%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BAldaz%20A%2C%20Ferriols%20R%2C%20Aumente%20D%2C%20Calvo%20MV%2C%20Farre%20MR%2C%20Garc%26%23xED%3Ba%20B%2C%20et%20al.%20Monitorizaci%26%23xF3%3Bn%20farmacocin%26%23xE9%3Btica%20de%20antiepil%26%23xE9%3Bpticos.%20Farmacia%20Hospitalaria%20%5BInternet%5D.%202011%20%5Bcited%202015%20Aug%208%5D%3B35%286%29%3A326%26%23x2013%3B39.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttp%3A%5C%2F%5C%2Flinkinghub.elsevier.com%5C%2Fretrieve%5C%2Fpii%5C%2FS1130634311000560%26%23039%3B%26gt%3Bhttp%3A%5C%2F%5C%2Flinkinghub.elsevier.com%5C%2Fretrieve%5C%2Fpii%5C%2FS1130634311000560%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Monitorizaci%5Cu00f3n%20farmacocin%5Cu00e9tica%20de%20antiepil%5Cu00e9pticos%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22A.%22%2C%22lastName%22%3A%22Aldaz%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22R.%22%2C%22lastName%22%3A%22Ferriols%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22D.%22%2C%22lastName%22%3A%22Aumente%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22M.V.%22%2C%22lastName%22%3A%22Calvo%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22M.R.%22%2C%22lastName%22%3A%22Farre%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22B.%22%2C%22lastName%22%3A%22Garc%5Cu00eda%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22R.%22%2C%22lastName%22%3A%22Marqu%5Cu00e9s%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22P.%22%2C%22lastName%22%3A%22Mas%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22B.%22%2C%22lastName%22%3A%22Porta%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22M.%22%2C%22lastName%22%3A%22Outeda%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22D.%22%2C%22lastName%22%3A%22Soy%22%7D%5D%2C%22abstractNote%22%3A%22Monitoring%20plasma%20levels%20of%20antiepileptic%20drugs%20for%20the%20treatment%20and%20prophylaxis%20of%20epilepsy%20is%20one%20of%20the%20strategies%20enabling%20clinical%20results%20to%20improve%20by%20reducing%20adverse%20affects%20and%20increasing%20effectiveness.%20The%20objective%20of%20this%20article%20is%20to%20review%20the%20basic%20aspects%20in%20the%20monitoring%20of%20antiepileptic%20drugs%20using%20a%20consensus%20document%20prepared%20and%20endorsed%20by%20the%20pharmacokinetics%20and%20pharmacogenetics%20working%20group%20%28PK.gen%29%20of%20the%20Sociedad%20Espa%5Cu00f1ola%20de%20Farmacia%20Hospitalaria%20%28Spanish%20Society%20of%20Hospital%20Pharmacists%29.%22%2C%22date%22%3A%2211%5C%2F2011%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1016%5C%2Fj.farma.2010.10.005%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Flinkinghub.elsevier.com%5C%2Fretrieve%5C%2Fpii%5C%2FS1130634311000560%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%2211306343%22%2C%22language%22%3A%22es%22%2C%22collections%22%3A%5B%22RCAXR6GN%22%5D%2C%22dateModified%22%3A%222026-07-15T23%3A35%3A12Z%22%7D%7D%2C%7B%22key%22%3A%22R87VQ235%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22parsedDate%22%3A%222015-04-13%22%2C%22numChildren%22%3A2%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BEpilepsy%20and%20Neurodevelopmental%20Disorders%20%5BInternet%5D.%20Clinical%20Gate.%202015.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttps%3A%5C%2F%5C%2Fclinicalgate.com%5C%2Fepilepsy-and-neurodevelopmental-disorders%5C%2F%26%23039%3B%26gt%3Bhttps%3A%5C%2F%5C%2Fclinicalgate.com%5C%2Fepilepsy-and-neurodevelopmental-disorders%5C%2F%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22blogPost%22%2C%22title%22%3A%22Epilepsy%20and%20Neurodevelopmental%20Disorders%22%2C%22creators%22%3A%5B%5D%2C%22abstractNote%22%3A%22Visit%20the%20post%20for%20more.%22%2C%22blogTitle%22%3A%22Clinical%20Gate%22%2C%22date%22%3A%222015-04-13T03%3A25%3A47%2B00%3A00%22%2C%22DOI%22%3A%2210.1016%5C%2Fb978-1-4377-0435-8.00055-x%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fclinicalgate.com%5C%2Fepilepsy-and-neurodevelopmental-disorders%5C%2F%22%2C%22ISSN%22%3A%22%22%2C%22language%22%3A%22%22%2C%22collections%22%3A%5B%22YR9L4RAW%22%5D%2C%22dateModified%22%3A%222026-07-15T23%3A34%3A47Z%22%7D%7D%2C%7B%22key%22%3A%22R8I25GDV%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Metzker%22%2C%22parsedDate%22%3A%222010%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BMetzker%20ML.%20Sequencing%20technologies%20%26%23x2014%3B%20the%20next%20generation.%20Nature%20Reviews%20Genetics%20%5BInternet%5D.%202010%20%5Bcited%202016%20Sept%2030%5D%3B11%281%29%3A31%26%23x2013%3B46.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttp%3A%5C%2F%5C%2Fwww.nature.com%5C%2Fdoifinder%5C%2F10.1038%5C%2Fnrg2626%26%23039%3B%26gt%3Bhttp%3A%5C%2F%5C%2Fwww.nature.com%5C%2Fdoifinder%5C%2F10.1038%5C%2Fnrg2626%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Sequencing%20technologies%20%5Cu2014%20the%20next%20generation%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Michael%20L.%22%2C%22lastName%22%3A%22Metzker%22%7D%5D%2C%22abstractNote%22%3A%22Demand%20has%20never%20been%20greater%20for%20revolutionary%20technologies%20that%20deliver%20fast%2C%20inexpensive%20and%20accurate%20genome%20information.%20This%20challenge%20has%20catalysed%20the%20development%20of%20next-generation%20sequencing%20%28NGS%29%20technologies.%20The%20inexpensive%20production%20of%20large%20volumes%20of%20sequence%20data%20is%20the%20primary%20advantage%20over%20conventional%20methods.%20Here%2C%20I%20present%20a%20technical%20review%20of%20template%20preparation%2C%20sequencing%20and%20imaging%2C%20genome%20alignment%20and%20assembly%20approaches%2C%20and%20recent%20advances%20in%20current%20and%20near-term%20commercially%20available%20NGS%20instruments.%20I%20also%20outline%20the%20broad%20range%20of%20applications%20for%20NGS%20technologies%2C%20in%20addition%20to%20providing%20guidelines%20for%20platform%20selection%20to%20address%20biological%20questions%20of%20interest.%22%2C%22date%22%3A%221%5C%2F2010%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1038%5C%2Fnrg2626%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Fwww.nature.com%5C%2Fdoifinder%5C%2F10.1038%5C%2Fnrg2626%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%221471-0056%2C%201471-0064%22%2C%22language%22%3A%22%22%2C%22collections%22%3A%5B%2284TR57I6%22%5D%2C%22dateModified%22%3A%222026-07-15T23%3A34%3A45Z%22%7D%7D%2C%7B%22key%22%3A%22R7787GPL%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Kerckhove%20et%20al.%22%2C%22parsedDate%22%3A%222015%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BKerckhove%20KV%2C%20Diels%20M%2C%20Vanhaesebrouck%20S%2C%20Luyten%20K%2C%20Pyck%20N%2C%20De%20Meyer%20A%2C%20et%20al.%20Consensus%20on%20the%20guidelines%20for%20the%20dietary%20management%20of%20classical%20galactosemia.%20Clinical%20Nutrition%20ESPEN%20%5BInternet%5D.%202015%20%5Bcited%202016%20July%2024%5D%3B10%281%29%3Ae1%26%23x2013%3B4.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttp%3A%5C%2F%5C%2Flinkinghub.elsevier.com%5C%2Fretrieve%5C%2Fpii%5C%2FS2212826314000487%26%23039%3B%26gt%3Bhttp%3A%5C%2F%5C%2Flinkinghub.elsevier.com%5C%2Fretrieve%5C%2Fpii%5C%2FS2212826314000487%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Consensus%20on%20the%20guidelines%20for%20the%20dietary%20management%20of%20classical%20galactosemia%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Kristel%20Vande%22%2C%22lastName%22%3A%22Kerckhove%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Marianne%22%2C%22lastName%22%3A%22Diels%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Sigrid%22%2C%22lastName%22%3A%22Vanhaesebrouck%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Karin%22%2C%22lastName%22%3A%22Luyten%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Nancy%22%2C%22lastName%22%3A%22Pyck%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22An%22%2C%22lastName%22%3A%22De%20Meyer%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Marleen%22%2C%22lastName%22%3A%22Van%20Driessche%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Martine%22%2C%22lastName%22%3A%22Robert%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Karen%22%2C%22lastName%22%3A%22Corthouts%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Ariane%22%2C%22lastName%22%3A%22Caris%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Emilie%22%2C%22lastName%22%3A%22Duchateau%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Martine%22%2C%22lastName%22%3A%22Dassy%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Genevieve%22%2C%22lastName%22%3A%22Bihet%22%7D%5D%2C%22abstractNote%22%3A%22Worldwide%20there%20is%20scientific%20discussion%20about%20the%20dietary%20management%20of%20galactosemia.%20The%20dietary%20management%20is%20very%20different%20in%20several%20countries%20among%20Europe%2C%20the%20US%20and%20Canada.%20The%20main%20points%20of%20discussion%20are%20related%20to%20the%20fact%20that%20i%29%20despite%20a%20strict%20diet%20some%20patients%20still%20have%20poor%20outcomes%3B%20ii%29%20there%20is%20lack%20of%20scientific%20knowledge%20about%20the%20role%20of%20endogenous%20production%20of%20galactose%20on%20disease%20evolution%2C%20with%20or%20without%20diet.%20The%20aim%20of%20the%20current%20work%20was%20the%20creation%20of%20a%20Belgian%20consensus%20on%20dietary%20guidelines%20for%20the%20management%20of%20galactosemia.%22%2C%22date%22%3A%2202%5C%2F2015%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1016%5C%2Fj.clnme.2014.10.001%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Flinkinghub.elsevier.com%5C%2Fretrieve%5C%2Fpii%5C%2FS2212826314000487%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%2224054577%22%2C%22language%22%3A%22en%22%2C%22collections%22%3A%5B%22LRUWJM2A%22%5D%2C%22dateModified%22%3A%222026-07-15T23%3A34%3A33Z%22%7D%7D%2C%7B%22key%22%3A%22R3JVJUAS%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Bressman%22%2C%22parsedDate%22%3A%222007%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BBressman%20SB.%20Genetics%20of%20dystonia%3A%20an%20overview.%20Parkinsonism%20%26amp%3B%20related%20disorders%20%5BInternet%5D.%202007%20%5Bcited%202016%20Mar%2010%5D%3B13%3AS347%26%23x2013%3B55.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttp%3A%5C%2F%5C%2Fwww.sciencedirect.com%5C%2Fscience%5C%2Farticle%5C%2Fpii%5C%2FS1353802008700294%26%23039%3B%26gt%3Bhttp%3A%5C%2F%5C%2Fwww.sciencedirect.com%5C%2Fscience%5C%2Farticle%5C%2Fpii%5C%2FS1353802008700294%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Genetics%20of%20dystonia%3A%20an%20overview%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Susan%20B.%22%2C%22lastName%22%3A%22Bressman%22%7D%5D%2C%22abstractNote%22%3A%22The%20torsion%20dystonias%20encompass%20a%20broad%20collection%20of%20etiologic%20subtypes%2C%20often%20divided%20into%20primary%20and%20secondary%20classes.%20Over%20the%20last%20two%20decades%20an%20increasing%20number%20of%20genetic%20causes%20have%20been%20identified%2C%20including%20an%20important%20genetic%20cause%20for%20early-onset%20primary%20torsion%20dystonia%20%28PTD%29%3A%20a%20GAG%20deletion%20in%20exon%205%20of%20DYT1%2C%20a%20gene%20that%20encodes%20torsinA.%20Although%20the%20exact%20function%20of%20torsinA%20remains%20elusive%2C%20evidence%20suggests%20aberrant%20localization%20and%20interaction%20of%20mutated%20protein%3B%20this%20may%20result%20in%20an%20abnormal%20response%20to%20stress%20or%20interference%20with%20cytoskeletal%20events%20and%20the%20development%20of%20neuronal%20brain%20pathways.%20Identification%20of%20DYT1%20has%20also%20permitted%20studies%20of%20both%20%26quot%3Bmanifesting%26quot%3B%20and%20%26quot%3Bnon-manifesting%26quot%3BDYT1%20mutation%20carriers.%20These%20investigations%20have%20expanded%20our%20understanding%20of%20clinical%20expression%20to%20include%20psychiatric%20symptoms%20and%20also%20have%20enabled%20imaging%20studies%20of%20endophenotypes.%20Similarly%2C%20there%20has%20been%20progress%20in%20our%20understanding%20of%20the%20genetic%20underpinnings%20of%20the%20%26quot%3Bdystonia-plus%26quot%3B%20syndromes%3A%20dopa-responsive%20dystonia%20%28DRD%29%2C%20myoclonus-dystonia%20%28M-D%29%2C%20and%20rapid-onset%20dystonia-parkinsonism%20%28RDP%29.%20These%20advances%20provide%20a%20widened%20platform%20for%20future%20research.%22%2C%22date%22%3A%222007%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1016%5C%2FS1353-8020%2808%2970029-4%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Fwww.sciencedirect.com%5C%2Fscience%5C%2Farticle%5C%2Fpii%5C%2FS1353802008700294%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%22%22%2C%22language%22%3A%22%22%2C%22collections%22%3A%5B%228FUWZNIP%22%5D%2C%22dateModified%22%3A%222026-07-15T23%3A34%3A09Z%22%7D%7D%2C%7B%22key%22%3A%22R2IDIUFD%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Rehm%22%2C%22parsedDate%22%3A%222013-03-12%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BRehm%20HL.%20Disease-targeted%20sequencing%3A%20a%20cornerstone%20in%20the%20clinic.%20Nature%20Reviews%20Genetics%20%5BInternet%5D.%202013%20Mar%2012%20%5Bcited%202016%20Sept%206%5D%3B14%284%29%3A295%26%23x2013%3B300.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttp%3A%5C%2F%5C%2Fwww.nature.com%5C%2Fdoifinder%5C%2F10.1038%5C%2Fnrg3463%26%23039%3B%26gt%3Bhttp%3A%5C%2F%5C%2Fwww.nature.com%5C%2Fdoifinder%5C%2F10.1038%5C%2Fnrg3463%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Disease-targeted%20sequencing%3A%20a%20cornerstone%20in%20the%20clinic%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Heidi%20L.%22%2C%22lastName%22%3A%22Rehm%22%7D%5D%2C%22abstractNote%22%3A%22With%20the%20declining%20cost%20of%20sequencing%20and%20the%20ongoing%20discovery%20of%20disease%20genes%2C%20it%20is%20now%20possible%20to%20examine%20hundreds%20of%20genes%20in%20a%20single%20disease-targeted%20test.%20Although%20exome-%20and%20genome-sequencing%20approaches%20are%20beginning%20to%20compete%2C%20disease-targeted%20testing%20retains%20certain%20advantages%20and%20still%20holds%20a%20firm%20place%20in%20the%20diagnostic%20evaluation.%20Here%20I%20examine%20the%20current%20state%20of%20clinical%20disease-targeted%20sequencing%20and%20evaluate%20the%20benefits%20and%20challenges%20of%20incorporating%20sequencing%20tests%20into%20patient%20care.%22%2C%22date%22%3A%222013-3-12%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1038%5C%2Fnrg3463%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Fwww.nature.com%5C%2Fdoifinder%5C%2F10.1038%5C%2Fnrg3463%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%221471-0056%2C%201471-0064%22%2C%22language%22%3A%22%22%2C%22collections%22%3A%5B%2284TR57I6%22%5D%2C%22dateModified%22%3A%222026-07-15T23%3A34%3A08Z%22%7D%7D%2C%7B%22key%22%3A%22QY4YVJ4D%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Tarnopolsky%22%2C%22parsedDate%22%3A%222012-02-01%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BTarnopolsky%20M.%20Exercise%20Testing%20in%20Metabolic%20Myopathies.%20Physical%20Medicine%20and%20Rehabilitation%20Clinics%20of%20North%20America%20%5BInternet%5D.%202012%20Feb%201%20%5Bcited%202019%20Dec%2015%5D%3B23%281%29%3A173%26%23x2013%3B86.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttp%3A%5C%2F%5C%2Fwww.sciencedirect.com%5C%2Fscience%5C%2Farticle%5C%2Fpii%5C%2FS1047965111001100%26%23039%3B%26gt%3Bhttp%3A%5C%2F%5C%2Fwww.sciencedirect.com%5C%2Fscience%5C%2Farticle%5C%2Fpii%5C%2FS1047965111001100%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Exercise%20Testing%20in%20Metabolic%20Myopathies%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Mark%22%2C%22lastName%22%3A%22Tarnopolsky%22%7D%5D%2C%22abstractNote%22%3A%22Metabolic%20myopathies%20are%20a%20group%20of%20genetic%20disorders%20specifically%20affecting%20glucose%5C%2Fglycogen%2C%20lipid%2C%20and%20mitochondrial%20metabolism.%20The%20main%20metabolic%20myopathies%20that%20are%20evaluated%20in%20this%20article%20are%20the%20mitochondrial%20myopathies%2C%20fatty%20acid%20oxidation%20defects%2C%20and%20glycogen%20storage%20disease.%20This%20article%20focuses%20on%20the%20usefulness%20of%20exercise%20in%20the%20evaluation%20of%20genetic%20metabolic%20myopathies.%22%2C%22date%22%3A%22February%201%2C%202012%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1016%5C%2Fj.pmr.2011.11.011%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Fwww.sciencedirect.com%5C%2Fscience%5C%2Farticle%5C%2Fpii%5C%2FS1047965111001100%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%221047-9651%22%2C%22language%22%3A%22en%22%2C%22collections%22%3A%5B%227PBNMVBP%22%5D%2C%22dateModified%22%3A%222026-07-15T23%3A33%3A55Z%22%7D%7D%2C%7B%22key%22%3A%22QWIP93DY%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Toledo-Alberola%20and%20Betlloch-Mas%22%2C%22parsedDate%22%3A%222010%22%2C%22numChildren%22%3A4%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BToledo-Alberola%20F%2C%20Betlloch-Mas%20I.%20Eritemas%20anulares%20en%20la%20infancia.%20Actas%20Dermo-Sifiliogr%26%23xE1%3Bficas%20%5BInternet%5D.%202010%20%5Bcited%202014%20Nov%203%5D%3B101%286%29%3A473%26%23x2013%3B84.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttp%3A%5C%2F%5C%2Fwww.actasdermo.org%5C%2Fes%5C%2Feritemas-anulares-infancia%5C%2Farticulo%5C%2F13154280%5C%2F%26%23039%3B%26gt%3Bhttp%3A%5C%2F%5C%2Fwww.actasdermo.org%5C%2Fes%5C%2Feritemas-anulares-infancia%5C%2Farticulo%5C%2F13154280%5C%2F%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Eritemas%20anulares%20en%20la%20infancia%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22F.%22%2C%22lastName%22%3A%22Toledo-Alberola%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22I.%22%2C%22lastName%22%3A%22Betlloch-Mas%22%7D%5D%2C%22abstractNote%22%3A%22Measuring%20the%20ability%20of%20SARS-CoV-2%20antibodies%20to%20neutralize%20live%20viruses%20remains%20an%20effective%20approach%20to%20quantify%20the%20level%20of%20protection%20of%20individuals.%20We%20assessed%20the%20neutralization%20activity%20against%20the%20ancestral%20SARS-CoV-2%2C%20Delta%2C%20Omicron%20BA.1%2C%20BA.2%2C%20BA.2.12.1%2C%20BA.4%20and%20BA.5%20strains%2C%20in%20280%20vaccinated%20restaurant%5C%2Fbar%2C%20grocery%20and%20hardware%20store%20workers%20in%20Qu%5Cu00e9bec%2C%20Canada.%22%2C%22date%22%3A%227%5C%2F2010%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1016%5C%2Fj.ad.2009.11.023%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Fwww.actasdermo.org%5C%2Fes%5C%2Feritemas-anulares-infancia%5C%2Farticulo%5C%2F13154280%5C%2F%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%2200017310%22%2C%22language%22%3A%22es%22%2C%22collections%22%3A%5B%2233PLIMR2%22%5D%2C%22dateModified%22%3A%222026-07-15T23%3A33%3A42Z%22%7D%7D%2C%7B%22key%22%3A%22QV65ZRQQ%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Schneider%20and%20Bhatia%22%2C%22parsedDate%22%3A%222010-08-07%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BSchneider%20SA%2C%20Bhatia%20KP.%20Rare%20Causes%20of%20Dystonia%20Parkinsonism.%20Current%20Neurology%20and%20Neuroscience%20Reports%20%5BInternet%5D.%202010%20Aug%207%20%5Bcited%202012%20Mar%2026%5D%3B10%286%29%3A431%26%23x2013%3B9.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttp%3A%5C%2F%5C%2Fwww.springerlink.com%5C%2Findex%5C%2F10.1007%5C%2Fs11910-010-0136-0%26%23039%3B%26gt%3Bhttp%3A%5C%2F%5C%2Fwww.springerlink.com%5C%2Findex%5C%2F10.1007%5C%2Fs11910-010-0136-0%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Rare%20Causes%20of%20Dystonia%20Parkinsonism%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Susanne%20A.%22%2C%22lastName%22%3A%22Schneider%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Kailash%20P.%22%2C%22lastName%22%3A%22Bhatia%22%7D%5D%2C%22abstractNote%22%3A%22The%20list%20of%20genetic%20causes%20of%20syndromes%20of%20dystonia%20parkinsonism%20grows%20constantly.%20As%20a%20consequence%2C%20the%20diagnosis%20becomes%20more%20and%20more%20challenging%20for%20the%20clinician.%20Here%2C%20we%20summarize%20the%20important%20causes%20of%20dystonia%20parkinsonism%20including%20autosomal-dominant%2C%20recessive%2C%20and%20x-linked%20forms.%20We%20cover%20dopa-responsive%20dystonia%2C%20Wilson%26%23039%3Bs%20disease%2C%20Parkin-%2C%20PINK1-%2C%20and%20DJ-1-associated%20parkinsonism%20%28PARK2%2C%206%2C%20and%207%29%2C%20x-linked%20dystonia-parkinsonism%5C%2FLubag%20%28DYT3%29%2C%20rapid-onset%20dystonia-parkinsonism%20%28DYT12%29%20and%20DYT16%20dystonia%2C%20the%20syndromes%20of%20Neurodegeneration%20with%20Brain%20Iron%20Accumulation%20%28NBIA%29%20including%20pantothenate%20kinase%20%28PANK2%29-%20and%20PLA2G6%20%28PARK14%29-associated%20neurodegeneration%2C%20neuroferritinopathy%2C%20Kufor-Rakeb%20disease%20%28PARK9%29%20and%20the%20recently%20described%20SENDA%20syndrome%3B%20FBXO7-associated%20neurodegeneration%20%28PARK15%29%2C%20autosomal-recessive%20spastic%20paraplegia%20with%20a%20thin%20corpus%20callosum%20%28SPG11%29%2C%20and%20dystonia%20parkinsonism%20due%20to%20mutations%20in%20the%20SLC6A3%20gene%20encoding%20the%20dopamine%20transporter.%20They%20have%20in%20common%20that%20in%20all%20these%20syndromes%20there%20may%20be%20a%20combination%20of%20dystonic%20and%20parkinsonian%20features%2C%20which%20may%20be%20complicated%20by%20pyramidal%20tract%20involvement.%20The%20aim%20of%20this%20review%20is%20to%20familiarize%20the%20clinician%20with%20the%20phenotypes%20of%20these%20disorders.%22%2C%22date%22%3A%222010-8-7%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1007%5C%2Fs11910-010-0136-0%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Fwww.springerlink.com%5C%2Findex%5C%2F10.1007%5C%2Fs11910-010-0136-0%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%221528-4042%2C%201534-6293%22%2C%22language%22%3A%22%22%2C%22collections%22%3A%5B%223PVRP6KU%22%5D%2C%22dateModified%22%3A%222026-07-15T23%3A33%3A29Z%22%7D%7D%2C%7B%22key%22%3A%22QRBPJ5XA%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22numChildren%22%3A2%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BContinuum%3A%20Casos%20cl%26%23xED%3Bnicos%20-%20Patolog%26%23xED%3Ba%20Neurol%26%23xF3%3Bgica%20%5BInternet%5D.%20%5Bcited%202026%20July%2013%5D.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttps%3A%5C%2F%5C%2Fcontinuum.aeped.es%5C%2Fcourses%5C%2Finfo%5C%2F1279%26%23039%3B%26gt%3Bhttps%3A%5C%2F%5C%2Fcontinuum.aeped.es%5C%2Fcourses%5C%2Finfo%5C%2F1279%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22webpage%22%2C%22title%22%3A%22Continuum%3A%20Casos%20cl%5Cu00ednicos%20-%20Patolog%5Cu00eda%20Neurol%5Cu00f3gica%22%2C%22creators%22%3A%5B%5D%2C%22abstractNote%22%3A%22%22%2C%22date%22%3A%22%22%2C%22DOI%22%3A%22%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fcontinuum.aeped.es%5C%2Fcourses%5C%2Finfo%5C%2F1279%22%2C%22language%22%3A%22%22%2C%22collections%22%3A%5B%22XUJASUPR%22%5D%2C%22dateModified%22%3A%222026-07-15T23%3A33%3A28Z%22%7D%7D%2C%7B%22key%22%3A%22QQRQRG7S%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Kobayashi%20and%20Pascual-Leone%22%2C%22parsedDate%22%3A%222003%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BKobayashi%20M%2C%20Pascual-Leone%20A.%20Transcranial%20magnetic%20stimulation%20in%20neurology.%20The%20Lancet%20Neurology.%202003%3B2%283%29%3A145%26%23x2013%3B56.%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Transcranial%20magnetic%20stimulation%20in%20neurology%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Masahito%22%2C%22lastName%22%3A%22Kobayashi%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Alvaro%22%2C%22lastName%22%3A%22Pascual-Leone%22%7D%5D%2C%22abstractNote%22%3A%22Transcranial%20magnetic%20stimulation%20%28TMS%29%20is%20a%20non-invasive%20tool%20for%20the%20electrical%20stimulation%20of%20neural%20tissue%2C%20including%20cerebral%20cortex%2C%20spinal%20roots%2C%20and%20cranial%20and%20peripheral%20nerves.%20TMS%20can%20be%20applied%20as%20single%20pulses%20of%20stimulation%2C%20pairs%20of%20stimuli%20separated%20by%20variable%20intervals%20to%20the%20same%20or%20different%20brain%20areas%2C%20or%20as%20trains%20of%20repetitive%20stimuli%20at%20various%20frequencies.%20Single%20stimuli%20can%20depolarise%20neurons%20and%20evoke%20measurable%20effects.%20Trains%20of%20stimuli%20%28repetitive%20TMS%29%20can%20modify%20excitability%20of%20the%20cerebral%20cortex%20at%20the%20stimulated%20site%20and%20also%20at%20remote%20areas%20along%20functional%20anatomical%20connections.%20TMS%20might%20provide%20novel%20insights%20into%20the%20pathophysiology%20of%20the%20neural%20circuitry%20underlying%20neurological%20and%20psychiatric%20disorders%2C%20be%20developed%20into%20clinically%20useful%20diagnostic%20and%20prognostic%20tests%2C%20and%20have%20therapeutic%20uses%20in%20various%20diseases.%20This%20potential%20is%20supported%20by%20the%20available%20studies%2C%20but%20more%20work%20is%20needed%20to%20establish%20the%20role%20of%20TMS%20in%20clinical%20neurology.%22%2C%22date%22%3A%222003%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1016%5C%2FS1474-4422%2803%2900321-1%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%22%22%2C%22language%22%3A%22%22%2C%22collections%22%3A%5B%22N4AYKUMJ%22%5D%2C%22dateModified%22%3A%222026-07-15T23%3A33%3A18Z%22%7D%7D%2C%7B%22key%22%3A%22QPI6VA9T%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Harrison%20and%20Wilson%22%2C%22parsedDate%22%3A%222005-06-01%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BHarrison%20AG%2C%20Wilson%20JB.%20Inattention%20and%20Dissociation%3A%20Overlapping%20Constructs%3F%20The%20ADHD%20Report%20%5BInternet%5D.%202005%20June%201%20%5Bcited%202014%20June%209%5D%3B13%283%29%3A9%26%23x2013%3B11.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttp%3A%5C%2F%5C%2Fguilfordjournals.com%5C%2Fdoi%5C%2Fabs%5C%2F10.1521%5C%2Fadhd.2005.13.3.9%26%23039%3B%26gt%3Bhttp%3A%5C%2F%5C%2Fguilfordjournals.com%5C%2Fdoi%5C%2Fabs%5C%2F10.1521%5C%2Fadhd.2005.13.3.9%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Inattention%20and%20Dissociation%3A%20Overlapping%20Constructs%3F%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Allyson%20G.%22%2C%22lastName%22%3A%22Harrison%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Jan%20Baker%22%2C%22lastName%22%3A%22Wilson%22%7D%5D%2C%22abstractNote%22%3A%22Epithelial%20cells%20contain%20polarity%20complexes%20on%20the%20lateral%20membrane%20and%20are%20organized%20in%20a%20hexagon-dominated%20polygonal%20array.%20The%20mechanisms%20regulating%20the%20organization%20of%20polygonal%20architecture%20in%20metazoan%20embryogenesis%20are%20not%20completely%20understood.%20Drosophila%20embryogenesis%20enables%20mechanistic%20analysis%20of%20epithelial%20polarity%20formation%20and%20its%20impact%20on%20polygonal%20organization.%20The%20plasma%20membrane%20%28PM%29%20of%20syncytial%20Drosophila%20blastoderm%20embryos%20is%20organized%20as%20a%20polygonal%20array%20with%20pseudocleavage%20furrow%20formation%20during%20the%20almost%20synchronous%20cortical%20division%20cycles.%20We%20find%20that%20polygonal%20%28PM%29%20organization%20arises%20in%20the%20metaphase%20%28MP%29%20of%20division%20cycle%2011%2C%20and%20hexagon%20dominance%20occurs%20with%20an%20increase%20in%20furrow%20length%20in%20the%20metaphase%20of%20cycle%2012.%20There%20is%20a%20decrease%20in%20cell%20shape%20index%20in%20metaphase%20from%20cycles%2011%20to%2013.%20This%20coincides%20with%20Drosophila%20E-cad%20%28DE-cadherin%29%20and%20Bazooka%20enrichment%20at%20the%20edges%20and%20the%20septin%2C%20Peanut%20at%20the%20vertices%20of%20the%20furrow.%20We%20further%20assess%20the%20role%20of%20polarity%20and%20adhesion%20proteins%20in%20pseudocleavage%20furrow%20formation%20and%20its%20organization%20as%20a%20polygonal%20array.%20We%20find%20that%20DE-cadherin%20depletion%20leads%20to%20decreased%20furrow%20length%2C%20loss%20of%20hexagon%20dominance%2C%20and%20increased%20cell%20shape%20index.%20Bazooka%20and%20Peanut%20depletion%20lead%20to%20decreased%20furrow%20length%2C%20delay%20in%20onset%20of%20hexagon%20dominance%20from%20cycle%2012%20to%2013%2C%20and%20increased%20cell%20shape%20index.%20Hexagon%20dominance%20occurs%20with%20an%20increase%20in%20furrow%20length%20in%20cycle%2013%20and%20increased%20DE-cadherin%2C%20possibly%20due%20to%20the%20inhibition%20of%20endocytosis.%20We%20conclude%20that%20polarity%20protein%20recruitment%20and%20regulation%20of%20endocytic%20pathways%20enable%20pseudocleavage%20furrow%20stability%20and%20the%20formation%20of%20a%20hexagon-dominated%20polygon%20array.%22%2C%22date%22%3A%22Junio%201%2C%202005%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1521%5C%2Fadhd.2005.13.3.9%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Fguilfordjournals.com%5C%2Fdoi%5C%2Fabs%5C%2F10.1521%5C%2Fadhd.2005.13.3.9%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%221065-8025%22%2C%22language%22%3A%22%22%2C%22collections%22%3A%5B%22LPM7RYGL%22%5D%2C%22dateModified%22%3A%222026-07-15T23%3A33%3A04Z%22%7D%7D%2C%7B%22key%22%3A%22QJ8TXZPS%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Campos-Castello%22%2C%22parsedDate%22%3A%221998%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BCampos-Castello%20J.%20Evaluaci%26%23xF3%3Bn%20neurol%26%23xF3%3Bgica%20de%20los%20trastornos%20del%20aprendizaje.%20Rev%20Neurol%20%5BInternet%5D.%201998%20%5Bcited%202016%20Jan%2029%5D%3B27%3A280%26%23x2013%3B5.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttp%3A%5C%2F%5C%2Fwww.neurologia.com%5C%2Fpdf%5C%2Fweb%5C%2F27156%5C%2Ff1560280.pdf%26%23039%3B%26gt%3Bhttp%3A%5C%2F%5C%2Fwww.neurologia.com%5C%2Fpdf%5C%2Fweb%5C%2F27156%5C%2Ff1560280.pdf%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Evaluaci%5Cu00f3n%20neurol%5Cu00f3gica%20de%20los%20trastornos%20del%20aprendizaje%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22J.%22%2C%22lastName%22%3A%22Campos-Castello%22%7D%5D%2C%22abstractNote%22%3A%22INTRODUCTION%3A%20The%20neurological%20concept%20of%20learning%20is%20approached%20from%20a%20cybernetic%20point%20of%20view%2C%20taking%20into%20account%20that%20a%20child%20should%20recognize%20a%20fact%2C%20learn%20it%20semantically%20and%20decided%20whether%20it%20is%20worth%20storing%3B%20the%20dynamic%20aspect%20of%20memory%20is%20the%20true%20motor%20of%20the%20ability%20to%20learn%20and%20all%20this%20is%20modulated%20by%20the%20attention%20factor.%20DEVELOPMENT%3A%20The%20neurological%20evaluation%20of%20learning%20disorders%20is%20based%20on%20clinical%20examination%20which%20includes%20the%20so-called%20minor%20signs%20of%20the%20noetic%20functions%2C%20specifically%20language%2C%20the%20praxes%2C%20gnosias%2C%20perceptive-motor%20function%2C%20laterality%20and%20the%20lexical%2C%20graphic%20and%20calculation%20functions%20together%20with%20the%20modulating%20element%2C%20mentioned%20above%2C%20of%20the%20level%20of%20attention%20with%20or%20without%20hyperactivity.%20These%20semiological%20elements%20are%20grouped%20into%20three%20major%20categories%20of%20syndromes%3A%20motor%20syndrome%2C%20dyslexic-dysgraphic-dyscalculation%20syndrome%20and%20the%20hyperkinetic%20syndrome%20or%20attention%20deficit%20with%20hyperactivity.%20We%20also%20note%20the%20differential%20diagnosis.%20We%20review%20the%20neurophysiological%20biological%20markers%20%28EEG%20and%20brain%20mapping%2C%20cerebral%20evoked%20potentials%2C%20neurometry%29%20and%20those%20based%20on%20neuroimaging%20techniques%20%28cerebral%20CT%2C%20MR%2C%20SPECT%20and%20PET%29.%20CONCLUSIONS%3A%20The%20contribution%20of%20neurological%20assessment%20is%20considered%20as%20part%20of%20the%20functions%20of%20a%20multi-disciplinary%20team%20which%20should%20deal%20with%20the%20diagnosis%20and%20treatment%20of%20children%20with%20learning%20disorders.%22%2C%22date%22%3A%221998%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.33588%5C%2Frn.27156.98110%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Fwww.neurologia.com%5C%2Fpdf%5C%2Fweb%5C%2F27156%5C%2Ff1560280.pdf%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%22%22%2C%22language%22%3A%22%22%2C%22collections%22%3A%5B%224JZQ5NTJ%22%5D%2C%22dateModified%22%3A%222026-07-15T23%3A32%3A38Z%22%7D%7D%2C%7B%22key%22%3A%22QH8R5YR6%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Mardis%22%2C%22parsedDate%22%3A%222017%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BMardis%20ER.%20DNA%20sequencing%20technologies%3A%202006%26%23x2013%3B2016.%20Nat%20Protoc%20%5BInternet%5D.%202017%20%5Bcited%202019%20Aug%2031%5D%3B12%282%29%3A213%26%23x2013%3B8.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttp%3A%5C%2F%5C%2Fwww.nature.com%5C%2Farticles%5C%2Fnprot.2016.182%26%23039%3B%26gt%3Bhttp%3A%5C%2F%5C%2Fwww.nature.com%5C%2Farticles%5C%2Fnprot.2016.182%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22DNA%20sequencing%20technologies%3A%202006%5Cu20132016%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Elaine%20R%22%2C%22lastName%22%3A%22Mardis%22%7D%5D%2C%22abstractNote%22%3A%22Recent%20advances%20in%20the%20field%20of%20genomics%20have%20largely%20been%20due%20to%20the%20ability%20to%20sequence%20DNA%20at%20increasing%20throughput%20and%20decreasing%20cost.%20DNA%20sequencing%20was%20first%20introduced%20in%201977%2C%20and%20next-generation%20sequencing%20technologies%20have%20been%20available%20only%20during%20the%20past%20decade%2C%20but%20the%20diverse%20experiments%20and%20corresponding%20analyses%20facilitated%20by%20these%20techniques%20have%20transformed%20biological%20and%20biomedical%20research.%20Here%2C%20I%20review%20developments%20in%20DNA%20sequencing%20technologies%20over%20the%20past%2010%20years%20and%20look%20to%20the%20future%20for%20further%20applications.%22%2C%22date%22%3A%222%5C%2F2017%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1038%5C%2Fnprot.2016.182%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Fwww.nature.com%5C%2Farticles%5C%2Fnprot.2016.182%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%221754-2189%2C%201750-2799%22%2C%22language%22%3A%22en%22%2C%22collections%22%3A%5B%2284TR57I6%22%5D%2C%22dateModified%22%3A%222026-07-15T23%3A32%3A26Z%22%7D%7D%2C%7B%22key%22%3A%22QH5HVZVL%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Parchi%20et%20al.%22%2C%22parsedDate%22%3A%222012%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BParchi%20P%2C%20de%20Boni%20L%2C%20Saverioni%20D%2C%20Cohen%20ML%2C%20Ferrer%20I%2C%20Gambetti%20P%2C%20et%20al.%20Consensus%20classification%20of%20human%20prion%20disease%20histotypes%20allows%20reliable%20identification%20of%20molecular%20subtypes%3A%20an%20inter-rater%20study%20among%20surveillance%20centres%20in%20Europe%20and%20USA.%20Acta%20Neuropathologica%20%5BInternet%5D.%202012%20%5Bcited%202016%20Jan%208%5D%3B124%284%29%3A517%26%23x2013%3B29.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttp%3A%5C%2F%5C%2Flink.springer.com%5C%2F10.1007%5C%2Fs00401-012-1002-8%26%23039%3B%26gt%3Bhttp%3A%5C%2F%5C%2Flink.springer.com%5C%2F10.1007%5C%2Fs00401-012-1002-8%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Consensus%20classification%20of%20human%20prion%20disease%20histotypes%20allows%20reliable%20identification%20of%20molecular%20subtypes%3A%20an%20inter-rater%20study%20among%20surveillance%20centres%20in%20Europe%20and%20USA%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Piero%22%2C%22lastName%22%3A%22Parchi%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Laura%22%2C%22lastName%22%3A%22de%20Boni%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Daniela%22%2C%22lastName%22%3A%22Saverioni%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Mark%20L.%22%2C%22lastName%22%3A%22Cohen%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Isidro%22%2C%22lastName%22%3A%22Ferrer%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Pierluigi%22%2C%22lastName%22%3A%22Gambetti%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Ellen%22%2C%22lastName%22%3A%22Gelpi%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Giorgio%22%2C%22lastName%22%3A%22Giaccone%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Jean-Jacques%22%2C%22lastName%22%3A%22Hauw%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Romana%22%2C%22lastName%22%3A%22H%5Cu00f6ftberger%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22James%20W.%22%2C%22lastName%22%3A%22Ironside%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Casper%22%2C%22lastName%22%3A%22Jansen%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Gabor%20G.%22%2C%22lastName%22%3A%22Kovacs%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Annemieke%22%2C%22lastName%22%3A%22Rozemuller%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Danielle%22%2C%22lastName%22%3A%22Seilhean%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Fabrizio%22%2C%22lastName%22%3A%22Tagliavini%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Armin%22%2C%22lastName%22%3A%22Giese%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Hans%20A.%22%2C%22lastName%22%3A%22Kretzschmar%22%7D%5D%2C%22abstractNote%22%3A%22The%20current%20classification%20of%20human%20sporadic%20prion%20diseases%20recognizes%20six%20major%20phenotypic%20subtypes%20with%20distinctive%20clinicopathological%20features%2C%20which%20largely%20correlate%20at%20the%20molecular%20level%20with%20the%20genotype%20at%20the%20polymorphic%20codon%20129%20%28methionine%2C%20M%2C%20or%20valine%2C%20V%29%20in%20the%20prion%20protein%20gene%20and%20with%20the%20size%20of%20the%20protease-resistant%20core%20of%20the%20abnormal%20prion%20protein%2C%20PrPSc%20%28i.e.%20type%201%20migrating%20at%2021%5Cu00a0kDa%20and%20type%202%20at%2019%5Cu00a0kDa%29.%20We%20previously%20demonstrated%20that%20PrPSc%20typing%20by%20Western%20blotting%20is%20a%20reliable%20means%20of%20strain%20typing%20and%20disease%20classification.%20Limitations%20of%20this%20approach%2C%20however%2C%20particularly%20in%20the%20interlaboratory%20setting%2C%20are%20the%20association%20of%20PrPSc%20types%201%20or%202%20with%20more%20than%20one%20clinicopathological%20phenotype%2C%20which%20precludes%20definitive%20case%20classification%20if%20not%20supported%20by%20further%20analysis%2C%20and%20the%20difficulty%20of%20fully%20recognizing%20cases%20with%20mixed%20phenotypic%20features.%20In%20this%20study%2C%20we%20tested%20the%20inter-rater%20reliability%20of%20disease%20classification%20based%20only%20on%20histopathological%20criteria.%20Slides%20from%2021%20cases%20covering%20the%20whole%20phenotypic%20spectrum%20of%20human%20sporadic%20prion%20diseases%2C%20and%20also%20including%20two%20cases%20of%20variant%20Creutzfeldt%5Cu2013Jakob%20disease%20%28CJD%29%2C%20were%20distributed%20blindly%20to%2013%20assessors%20for%20classification%20according%20to%20given%20instructions.%20The%20results%20showed%20good-to-excellent%20agreement%20between%20assessors%20in%20the%20classification%20of%20cases.%20In%20particular%2C%20there%20was%20full%20agreement%20%28100%5Cu00a0%25%29%20for%20the%20two%20most%20common%20sporadic%20CJD%20subtypes%20and%20variant%20CJD%2C%20and%20very%20high%20concordance%20in%20general%20for%20all%20pure%20phenotypes%20and%20the%20most%20common%20subtype%20with%20mixed%20phenotypic%20features.%20The%20present%20data%20fully%20support%20the%20basis%20for%20the%20current%20classification%20of%20sporadic%20human%20prion%20diseases%20and%20indicate%20that%2C%20besides%20molecular%20PrPSc%20typing%2C%20histopathological%20analysis%20permits%20reliable%20disease%20classification%20with%20high%20interlaboratory%20accuracy.%22%2C%22date%22%3A%2210%5C%2F2012%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1007%5C%2Fs00401-012-1002-8%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Flink.springer.com%5C%2F10.1007%5C%2Fs00401-012-1002-8%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%220001-6322%2C%201432-0533%22%2C%22language%22%3A%22en%22%2C%22collections%22%3A%5B%2297422UXN%22%2C%22VV74KMGP%22%5D%2C%22dateModified%22%3A%222026-07-15T23%3A32%3A13Z%22%7D%7D%2C%7B%22key%22%3A%22PPTP9ZGA%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Khadilkar%20et%20al.%22%2C%22parsedDate%22%3A%222016%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BKhadilkar%20S%2C%20Jaggi%20S%2C%20Patel%20B%2C%20Yadav%20R%2C%20Hanagandi%20P%2C%20Faria%20do%20Amaral%20LL.%20A%20practical%20approach%20to%20diseases%20affecting%20dentate%20nuclei.%20Clinical%20Radiology%20%5BInternet%5D.%202016%20%5Bcited%202017%20Mar%2027%5D%3B71%281%29%3A107%26%23x2013%3B19.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttp%3A%5C%2F%5C%2Flinkinghub.elsevier.com%5C%2Fretrieve%5C%2Fpii%5C%2FS0009926015003840%26%23039%3B%26gt%3Bhttp%3A%5C%2F%5C%2Flinkinghub.elsevier.com%5C%2Fretrieve%5C%2Fpii%5C%2FS0009926015003840%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22A%20practical%20approach%20to%20diseases%20affecting%20dentate%20nuclei%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22S.%22%2C%22lastName%22%3A%22Khadilkar%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22S.%22%2C%22lastName%22%3A%22Jaggi%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22B.%22%2C%22lastName%22%3A%22Patel%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22R.%22%2C%22lastName%22%3A%22Yadav%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22P.%22%2C%22lastName%22%3A%22Hanagandi%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22L.L.%22%2C%22lastName%22%3A%22Faria%20do%20Amaral%22%7D%5D%2C%22abstractNote%22%3A%22A%20wide%20variety%20of%20diseases%20affect%20the%20dentate%20nuclei.%20When%20faced%20with%20the%20radiological%20demonstration%20of%20signal%20changes%20in%20the%20dentate%20nuclei%2C%20radiologists%20and%20clinical%20neurologists%20have%20to%20sieve%20through%20the%20many%20possibilities%2C%20which%20they%20do%20not%20encounter%20on%20a%20regular%20basis.%20This%20task%20can%20be%20challenging%2C%20and%20therefore%2C%20developing%20a%20clinical%2C%20radiological%2C%20and%20laboratory%20approach%20is%20important.%20Information%20on%20the%20topic%20is%20scattered%20and%20the%20subject%20has%20not%20yet%20been%20reviewed.%20In%20this%20review%2C%20a%20combined%20clinicoradiological%20approach%20is%20presented.%20The%20signal%20changes%20in%20T1%2C%20T2%2C%20fluid-attenuated%20inversion%20recovery%20%28FLAIR%29%2C%20diffusion%2C%20susceptibility%20weighted%2C%20and%20gadolinium-enhanced%20images%20can%20give%20specific%20or%20highly%20suggestive%20patterns%2C%20which%20are%20illustrated.%20The%20role%20of%20computed%20tomography%20%28CT%29%20in%20the%20diagnostic%20process%20is%20discussed.%20Specific%20radiological%20patterns%20do%20not%20exist%20in%20a%20significant%20proportion%20of%20patients%20where%20the%20clinical%20and%20laboratory%20analysis%20becomes%20important.%20In%20this%20review%2C%20we%20group%20the%20clinical%20constellations%20to%20narrow%20down%20the%20differential%20diagnosis%20and%20highlight%20the%20diagnostic%20clinical%20signs%2C%20such%20as%20tendon%20xanthomas%20and%20Kayser-Fleischer%20rings.%20As%20will%20be%20seen%2C%20a%20number%20of%20these%20conditions%20are%20potentially%20reversible%2C%20and%20hence%2C%20their%20early%20diagnosis%20is%20desirable.%20Finally%2C%20key%20diagnostic%20tests%20and%20available%20therapies%20are%20outlined.%20The%20practical%20approach%20thus%20begins%20with%20the%20radiologist%20and%20winds%20its%20way%20through%20the%20clinician%2C%20towards%20carefully%20selected%20diagnostic%20tests%20defining%20the%20therapy%20options.%22%2C%22date%22%3A%2201%5C%2F2016%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1016%5C%2Fj.crad.2015.09.010%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Flinkinghub.elsevier.com%5C%2Fretrieve%5C%2Fpii%5C%2FS0009926015003840%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%2200099260%22%2C%22language%22%3A%22en%22%2C%22collections%22%3A%5B%22RHJ4SR7B%22%5D%2C%22dateModified%22%3A%222026-07-15T23%3A31%3A05Z%22%7D%7D%2C%7B%22key%22%3A%22PJJ46NF2%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Roongroj%20Bhidayasiri%20MD%20and%20Md%22%2C%22parsedDate%22%3A%222012-01-01%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BRoongroj%20Bhidayasiri%20MD%20F%2C%20Md%20DT.%20Adult%20Onset%20Tic%20Disorder.%20In%3A%20Movement%20Disorders%3A%20A%20Video%20Atlas%20%5BInternet%5D.%20Humana%20Press%3B%202012%20%5Bcited%202013%20Sept%2013%5D.%20p.%20236%26%23x2013%3B7.%20%28Current%20Clinical%20Neurology%29.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttp%3A%5C%2F%5C%2Flink.springer.com%5C%2Fchapter%5C%2F10.1007%5C%2F978-1-60327-426-5_108%26%23039%3B%26gt%3Bhttp%3A%5C%2F%5C%2Flink.springer.com%5C%2Fchapter%5C%2F10.1007%5C%2F978-1-60327-426-5_108%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22bookSection%22%2C%22title%22%3A%22Adult%20Onset%20Tic%20Disorder%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Frcp%22%2C%22lastName%22%3A%22Roongroj%20Bhidayasiri%20MD%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Daniel%20Tarsy%22%2C%22lastName%22%3A%22Md%22%7D%5D%2C%22abstractNote%22%3A%22According%20to%20the%20DSM-IV-TR%20criteria%2C%20the%20diagnosis%20of%20Tourette%20syndrome%20%28TS%29%20includes%20onset%20before%20the%20age%20of%2018%20years.%20However%2C%20the%20symptoms%20of%20TS%20may%20persist%20into%20adulthood%2C%20and%20rarely%20a%20major%20tic%20disorder%20may%20begin%20for%20the%20first%20time%20in%20adults.%20Compared%20to%20childhood-onset%20TS%2C%20adult%20patients%20with%20severe%20tic%20disorders%20have%20significantly%20more%20facial%20and%20truncal%20tics%2C%20and%20there%20is%20an%20association%20with%20substance%20abuse%20and%20mood%20disorders.%20They%20have%20fewer%20phonic%20tics%20and%20a%20lower%20incidence%20of%20attention%20deficit-hyperactivity%20disorder.%20However%2C%20most%20of%20the%20time%2C%20severe%20tic%20disorders%20in%20adults%20probably%20represent%20a%20reappearance%20or%20exacerbation%20of%20childhood-onset%20TS.%22%2C%22bookTitle%22%3A%22Movement%20Disorders%3A%20A%20Video%20Atlas%22%2C%22date%22%3A%222012%5C%2F01%5C%2F01%22%2C%22originalDate%22%3A%22%22%2C%22originalPublisher%22%3A%22%22%2C%22originalPlace%22%3A%22%22%2C%22format%22%3A%22%22%2C%22ISBN%22%3A%22978-1-60327-425-8%20978-1-60327-426-5%22%2C%22DOI%22%3A%2210.1007%5C%2F978-1-60327-426-5_108%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Flink.springer.com%5C%2Fchapter%5C%2F10.1007%5C%2F978-1-60327-426-5_108%22%2C%22ISSN%22%3A%22%22%2C%22language%22%3A%22en%22%2C%22collections%22%3A%5B%22456LPJXW%22%5D%2C%22dateModified%22%3A%222026-07-15T23%3A30%3A55Z%22%7D%7D%2C%7B%22key%22%3A%22PHWN9YHY%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Lenglet%20and%20Camdessanch%5Cu00e9%22%2C%22parsedDate%22%3A%222017%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BLenglet%20T%2C%20Camdessanch%26%23xE9%3B%20JP.%20Amyotrophic%20lateral%20sclerosis%20or%20not%3A%20Keys%20for%20the%20diagnosis.%20Revue%20Neurologique%20%5BInternet%5D.%202017%20%5Bcited%202017%20May%2025%5D%3B173%285%29%3A280%26%23x2013%3B7.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttp%3A%5C%2F%5C%2Flinkinghub.elsevier.com%5C%2Fretrieve%5C%2Fpii%5C%2FS003537871730471X%26%23039%3B%26gt%3Bhttp%3A%5C%2F%5C%2Flinkinghub.elsevier.com%5C%2Fretrieve%5C%2Fpii%5C%2FS003537871730471X%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Amyotrophic%20lateral%20sclerosis%20or%20not%3A%20Keys%20for%20the%20diagnosis%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22T.%22%2C%22lastName%22%3A%22Lenglet%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22J.-P.%22%2C%22lastName%22%3A%22Camdessanch%5Cu00e9%22%7D%5D%2C%22abstractNote%22%3A%22Amyotrophic%20lateral%20sclerosis%20%28ALS%29%20is%20a%20degenerative%20motor%20neuron%20disease%20%28MND%29%20which%20prognosis%20is%20poor.%20Early%20diagnosis%20permit%20to%20set%20up%20immediately%20adapted%20treatment%20and%20cares.%20Available%20diagnostic%20criteria%20are%20based%20on%20the%20detection%20of%20both%20central%20and%20peripheral%20motor%20neuron%20injury%20in%20bulbar%2C%20cervical%2C%20thoracic%20and%20lumbar%20regions.%20Electrodiagnostic%20%28EDX%29%20tests%20are%20the%20key%20tools%20to%20identify%20peripheral%20motor%20neuron%20involvement.%20Needle%20examination%20records%20abnormal%20activities%20at%20rest%2C%20and%20looks%20for%20neurogenic%20pattern%20during%20muscle%20contraction.%20Motor%20unit%20potentials%20morphology%20is%20modified%20primary%20to%20recruitment.%20Motor%20evoked%20potentials%20remain%20the%20test%20of%20choice%20to%20identify%20impairment%20of%20central%20motor%20neurons.%20In%20the%20absence%20of%20diagnostic%20biomarker%20of%20ALS%20and%20among%20essential%20investigations%20of%20suspected%20MND%2C%20a%20careful%20clinical%20and%20neurophysiological%20work-up%20is%20essential%20to%20rule%20out%20the%20differential%20diagnosis.%22%2C%22date%22%3A%2205%5C%2F2017%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1016%5C%2Fj.neurol.2017.04.003%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Flinkinghub.elsevier.com%5C%2Fretrieve%5C%2Fpii%5C%2FS003537871730471X%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%2200353787%22%2C%22language%22%3A%22en%22%2C%22collections%22%3A%5B%22TK7GJAHK%22%5D%2C%22dateModified%22%3A%222026-07-15T23%3A30%3A54Z%22%7D%7D%2C%7B%22key%22%3A%22F79XHIZI%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Rehm%20et%20al.%22%2C%22parsedDate%22%3A%222015-05-27%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BRehm%20HL%2C%20Berg%20JS%2C%20Brooks%20LD%2C%20Bustamante%20CD%2C%20Evans%20JP%2C%20Landrum%20MJ%2C%20et%20al.%20ClinGen%20%26%23x2014%3B%20The%20Clinical%20Genome%20Resource.%20New%20England%20Journal%20of%20Medicine%20%5BInternet%5D.%202015%20May%2027%20%5Bcited%202015%20May%2029%5D%3B0%280%29%3Anull.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttp%3A%5C%2F%5C%2Fdx.doi.org%5C%2F10.1056%5C%2FNEJMsr1406261%26%23039%3B%26gt%3Bhttp%3A%5C%2F%5C%2Fdx.doi.org%5C%2F10.1056%5C%2FNEJMsr1406261%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22ClinGen%20%5Cu2014%20The%20Clinical%20Genome%20Resource%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Heidi%20L.%22%2C%22lastName%22%3A%22Rehm%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Jonathan%20S.%22%2C%22lastName%22%3A%22Berg%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Lisa%20D.%22%2C%22lastName%22%3A%22Brooks%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Carlos%20D.%22%2C%22lastName%22%3A%22Bustamante%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22James%20P.%22%2C%22lastName%22%3A%22Evans%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Melissa%20J.%22%2C%22lastName%22%3A%22Landrum%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22David%20H.%22%2C%22lastName%22%3A%22Ledbetter%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Donna%20R.%22%2C%22lastName%22%3A%22Maglott%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Christa%20Lese%22%2C%22lastName%22%3A%22Martin%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Robert%20L.%22%2C%22lastName%22%3A%22Nussbaum%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Sharon%20E.%22%2C%22lastName%22%3A%22Plon%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Erin%20M.%22%2C%22lastName%22%3A%22Ramos%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Stephen%20T.%22%2C%22lastName%22%3A%22Sherry%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Michael%20S.%22%2C%22lastName%22%3A%22Watson%22%7D%5D%2C%22abstractNote%22%3A%22On%20autopsy%2C%20a%20patient%20is%20found%20to%20have%20hypertrophic%20cardiomyopathy.%20The%20patient%5Cu2019s%20family%20pursues%20genetic%20testing%20that%20shows%20a%20%5Cu201clikely%20pathogenic%5Cu201d%20variant%20for%20the%20condition%20on%20the%20basis%20of%20a%20study%20in%20an%20original%20research%20publication.%20Given%20the%20dominant%20inheritance%20of%20the%20condition%20and%20the%20risk%20of%20sudden%20cardiac%20death%2C%20other%20family%20members%20are%20tested%20for%20the%20genetic%20variant%20to%20determine%20their%20risk.%20Several%20family%20members%20test%20negative%20and%20are%20told%20that%20they%20are%20not%20at%20risk%20for%20hypertrophic%20cardiomyopathy%20and%20sudden%20cardiac%20death%2C%20and%20those%20who%20test%20positive%20are%20told%20that%20they%20need%20to%20be%20regularly%20monitored%20for%20cardiomyopathy%20.%20.%20.%22%2C%22date%22%3A%22Mayo%2027%2C%202015%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1056%5C%2FNEJMsr1406261%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Fdx.doi.org%5C%2F10.1056%5C%2FNEJMsr1406261%22%2C%22PMID%22%3A%2226014595%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%220028-4793%22%2C%22language%22%3A%22%22%2C%22collections%22%3A%5B%22GAPPLHYV%22%5D%2C%22dateModified%22%3A%222026-07-15T23%3A30%3A47Z%22%7D%7D%2C%7B%22key%22%3A%22PCT6I3UL%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Vaidya%22%2C%22parsedDate%22%3A%222012-01-01%22%2C%22numChildren%22%3A2%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BVaidya%20CJ.%20Neurodevelopmental%20Abnormalities%20in%20ADHD.%20In%3A%20Stanford%20C%2C%20Tannock%20R%2C%20editors.%20Behavioral%20Neuroscience%20of%20Attention%20Deficit%20Hyperactivity%20Disorder%20and%20Its%20Treatment%20%5BInternet%5D.%20Springer%20Berlin%20Heidelberg%3B%202012%20%5Bcited%202013%20Sept%206%5D.%20p.%2049%26%23x2013%3B66.%20%28Current%20Topics%20in%20Behavioral%20Neurosciences%29.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttp%3A%5C%2F%5C%2Flink.springer.com%5C%2Fchapter%5C%2F10.1007%5C%2F7854_2011_138%26%23039%3B%26gt%3Bhttp%3A%5C%2F%5C%2Flink.springer.com%5C%2Fchapter%5C%2F10.1007%5C%2F7854_2011_138%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22bookSection%22%2C%22title%22%3A%22Neurodevelopmental%20Abnormalities%20in%20ADHD%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Chandan%20J.%22%2C%22lastName%22%3A%22Vaidya%22%7D%2C%7B%22creatorType%22%3A%22editor%22%2C%22firstName%22%3A%22Clare%22%2C%22lastName%22%3A%22Stanford%22%7D%2C%7B%22creatorType%22%3A%22editor%22%2C%22firstName%22%3A%22Rosemary%22%2C%22lastName%22%3A%22Tannock%22%7D%5D%2C%22abstractNote%22%3A%22Structural%20and%20functional%20imaging%20studies%20in%20subjects%20with%20attention%20deficit%20hyperactivity%20disorder%20%28ADHD%29%20are%20reviewed%20with%20the%20goal%20of%20gleaning%20information%20about%20neurodevelopmental%20abnormalities%20characterizing%20the%20disorder.%20Structural%20imaging%20studies%2C%20particularly%20those%20with%20longitudinal%20designs%2C%20suggest%20that%20brain%20maturation%20is%20delayed%20by%20a%20few%20years%20in%20ADHD.%20However%2C%20a%20maturational%20delay%20model%20alone%20is%20incomplete%3A%20alternate%20courses%20are%20suggested%20by%20differences%20associated%20with%20phenotypic%20factors%2C%20such%20as%20symptom%20remission%5C%2Fpersistence%20and%20exposure%20to%20stimulant%20treatment.%20Findings%20from%20functional%20imaging%20studies%20point%20to%20multiple%20loci%20of%20abnormalities%20that%20are%20not%20limited%20to%20frontal%5Cu2013striatal%20circuitry%2C%20which%20is%20important%20for%20executive%20and%20motivational%20function%2C%20but%20also%20include%20parietal%2C%20temporal%20and%20motor%20cortices%2C%20and%20the%20cerebellum.%20However%2C%20a%20definitive%20conclusion%20about%20maturational%20delays%20or%20alternate%20trajectories%20cannot%20be%20drawn%20from%20this%20work%20as%20activation%20patterns%20are%20influenced%20by%20task-specific%20factors%20that%20may%20induce%20variable%20performance%20levels%20and%20strategies%20across%20development.%20In%20addition%2C%20no%20studies%20have%20implemented%20cross-sectional%20or%20longitudinal%20designs%2C%20without%20which%20the%20developmental%20origin%20of%20differences%20in%20activation%20cannot%20be%20inferred.%20Thus%2C%20current%20task-evoked%20functional%20imaging%20provides%20information%20about%20dynamic%20or%20state-dependent%20differences%20rather%20than%20fixed%20or%20trait-related%20differences.%20In%20the%20future%2C%20task-free%20functional%20imaging%20holds%20promise%20for%20revealing%20neurodevelopmental%20information%20that%20is%20minimally%20influenced%20by%20performance%5C%2Fstrategic%20differences.%20Further%2C%20studies%20using%20longitudinal%20designs%20that%20identify%20sources%20of%20phenotypic%20heterogeneity%20in%20brain%20maturation%20and%20characterize%20the%20relationship%20between%20brain%20function%20and%20underlying%20structural%20properties%20are%20needed%20to%20provide%20a%20comprehensive%20view%20of%20neurodevelopmental%20abnormalities%20in%20ADHD.%22%2C%22bookTitle%22%3A%22Behavioral%20Neuroscience%20of%20Attention%20Deficit%20Hyperactivity%20Disorder%20and%20Its%20Treatment%22%2C%22date%22%3A%222012%5C%2F01%5C%2F01%22%2C%22originalDate%22%3A%22%22%2C%22originalPublisher%22%3A%22%22%2C%22originalPlace%22%3A%22%22%2C%22format%22%3A%22%22%2C%22ISBN%22%3A%22978-3-642-24611-1%20978-3-642-24612-8%22%2C%22DOI%22%3A%2210.1007%5C%2F7854_2011_138%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Flink.springer.com%5C%2Fchapter%5C%2F10.1007%5C%2F7854_2011_138%22%2C%22ISSN%22%3A%22%22%2C%22language%22%3A%22en%22%2C%22collections%22%3A%5B%22TAMMWMJW%22%5D%2C%22dateModified%22%3A%222026-07-15T23%3A30%3A31Z%22%7D%7D%2C%7B%22key%22%3A%22PBEWZP3M%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Jee%20and%20Baron%22%2C%22parsedDate%22%3A%222016%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BJee%20YH%2C%20Baron%20J.%20The%20Biology%20of%20Stature.%20The%20Journal%20of%20Pediatrics%20%5BInternet%5D.%202016%20%5Bcited%202018%20Mar%2012%5D%3B173%3A32%26%23x2013%3B8.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttp%3A%5C%2F%5C%2Flinkinghub.elsevier.com%5C%2Fretrieve%5C%2Fpii%5C%2FS0022347616002912%26%23039%3B%26gt%3Bhttp%3A%5C%2F%5C%2Flinkinghub.elsevier.com%5C%2Fretrieve%5C%2Fpii%5C%2FS0022347616002912%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22The%20Biology%20of%20Stature%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Youn%20Hee%22%2C%22lastName%22%3A%22Jee%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Jeffrey%22%2C%22lastName%22%3A%22Baron%22%7D%5D%2C%22abstractNote%22%3A%22From%20the%20Section%20on%20Growth%20and%20Development%2C%20Eunice%20Kennedy%20Shriver%20National%20ost%20pediatricians%20are%20attuned%20to%20their%20patients%5Cu2019%20linear%20growth%20%28height%20gain%29.%20At%20each%20visit%2C%20the%20child%5Cu2019s%20height%20should%20be%20carefully%20measured%20and%20plotted.%20The%20clinician%20can%20then%20scrutinize%20the%20temporal%20pattern%2C%20and%2C%20if%20the%20linear%20growth%20appears%20abnormal%2C%20initiate%20an%20investigation%20to%20uncover%20the%20underlying%20problem.%20Despite%20this%20close%20interest%20in%20our%20patients%5Cu2019%20statural%20gains%2C%20linear%20growth%20itself%20often%20is%20considered%20as%20a%20%5Cu201cblack%20box%2C%5Cu201d%20a%20mysterious%20process%20regulated%20by%20nutrition%2C%20hormones%2C%20genetics%2C%20and%20overall%20health.%20Recently%2C%20there%20have%20been%20exciting%20advances%20in%20understanding%20the%20biological%20basis%20of%20linear%20growth.%20We%20have%20gained%20new%20insights%20as%20to%20why%20linear%20growth%20is%20rapid%20in%20infancy%2C%20then%20slows%20in%20childhood%2C%20accelerates%20in%20adolescence%2C%20then%20slows%20again%20and%20ceases%20by%20adulthood.%20We%20now%20understand%20much%20better%20the%20mechanisms%20by%20which%20hormones%2C%20nutrition%2C%20and%20systemic%20illness%20regulate%20linear%20growth.%20Perhaps%20most%20exciting%2C%20genomewide%20association%20%28GWA%29%20studies%20and%20exome%20sequencing%20have%20begun%20to%20identify%20numerous%20novel%20genes%20that%20regulate%20linear%20growth%2C%20and%2C%20when%20mutated%2C%20cause%20childhood%20growth%20disorders.%20To%20understand%20these%20important%20new%20findings%20and%20their%20implications%20for%20our%20patients%2C%20we%20must%20look%20inside%20the%20black%20box%20of%20linear%20growth.%20Just%20as%20we%20can%20only%20understand%20children%5Cu2019s%20respiratory%20physiology%20in%20terms%20of%20lung%20biology%2C%20so%20too%20we%20can%20only%20understand%20linear%20growth%20and%20growth%20disorders%20in%20terms%20of%20the%20underlying%20biological%20process%2C%20growth%20plate%20chondrogenesis.%22%2C%22date%22%3A%2206%5C%2F2016%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1016%5C%2Fj.jpeds.2016.02.068%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Flinkinghub.elsevier.com%5C%2Fretrieve%5C%2Fpii%5C%2FS0022347616002912%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%2200223476%22%2C%22language%22%3A%22en%22%2C%22collections%22%3A%5B%22V6WCLXGL%22%5D%2C%22dateModified%22%3A%222026-07-15T23%3A30%3A12Z%22%7D%7D%2C%7B%22key%22%3A%22P88B76NM%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Accardo%20et%20al.%22%2C%22parsedDate%22%3A%222004%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BAccardo%20J%2C%20Kammann%20H%2C%20Hoon%20Jr%20AH.%20Neuroimaging%20in%20cerebral%20palsy.%20The%20Journal%20of%20Pediatrics%20%5BInternet%5D.%202004%20%5Bcited%202016%20Mar%2010%5D%3B145%282%29%3AS19%26%23x2013%3B27.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttp%3A%5C%2F%5C%2Flinkinghub.elsevier.com%5C%2Fretrieve%5C%2Fpii%5C%2FS0022347604004147%26%23039%3B%26gt%3Bhttp%3A%5C%2F%5C%2Flinkinghub.elsevier.com%5C%2Fretrieve%5C%2Fpii%5C%2FS0022347604004147%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Neuroimaging%20in%20cerebral%20palsy%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Jennifer%22%2C%22lastName%22%3A%22Accardo%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Heather%22%2C%22lastName%22%3A%22Kammann%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Alexander%20H.%22%2C%22lastName%22%3A%22Hoon%20Jr%22%7D%5D%2C%22abstractNote%22%3A%22Parents%20and%20clinicians%20concerned%20about%20high-risk%20infants%20and%20children%20with%20motor%20delay%20or%20cerebral%20palsy%20seek%20information%20on%20cause%2C%20treatment%2C%20prognosis%2C%20and%20recurrence%20risk.%20Used%20in%20combination%20with%20history%20and%20examination%2C%20neuroimaging%20studies%20can%20improve%20diagnosis%20and%20management.%20In%20premature%20infants%2C%20cranial%20ultrasound%20is%20a%20reliable%2C%20noninvasive%20diagnostic%20modality.%20Nuclear%20magnetic%20resonance%20techniques%20including%20magnetic%20resonance%20imaging%20and%20diffusion%20weighted%20imaging%20can%20be%20used%20effectively%20in%20neonatal%20encephalopathies.%20In%20children%20with%20motor%20delay%20and%20cerebral%20palsy%20syndromes%20including%20spastic%20diplegia%2C%20quadriplegia%2C%20hemiplegia%2C%20and%20extrapyramidal%20movement%20disorders%2C%20conventional%20magnetic%20resonance%20imaging%20has%20become%20an%20important%20determinant%20of%20diagnosis%20and%20management.%20The%20aim%20of%20this%20article%20is%20to%20help%20clinicians%20select%20and%20interpret%20imaging%20studies%20of%20benefit%20in%20clinical%20care.%22%2C%22date%22%3A%228%5C%2F2004%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1016%5C%2Fj.jpeds.2004.05.018%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Flinkinghub.elsevier.com%5C%2Fretrieve%5C%2Fpii%5C%2FS0022347604004147%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%2200223476%22%2C%22language%22%3A%22en%22%2C%22collections%22%3A%5B%227L3LPGBN%22%5D%2C%22dateModified%22%3A%222026-07-15T23%3A29%3A56Z%22%7D%7D%2C%7B%22key%22%3A%22P5MGCLMN%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Cort%5Cu00e8s-Saladelafont%20et%20al.%22%2C%22parsedDate%22%3A%222016%22%2C%22numChildren%22%3A4%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BCort%26%23xE8%3Bs-Saladelafont%20E%2C%20Trist%26%23xE1%3Bn-Noguero%20A%2C%20Artuch%20R%2C%20Altafaj%20X%2C%20Bay%26%23xE8%3Bs%20A%2C%20Garc%26%23xED%3Ba-Cazorla%20A.%20Diseases%20of%20the%20Synaptic%20Vesicle%3A%20A%20Potential%20New%20Group%20of%20Neurometabolic%20Disorders%20Affecting%20Neurotransmission.%20Seminars%20in%20Pediatric%20Neurology%20%5BInternet%5D.%202016%20%5Bcited%202017%20Nov%2017%5D%3B23%284%29%3A306%26%23x2013%3B20.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttp%3A%5C%2F%5C%2Flinkinghub.elsevier.com%5C%2Fretrieve%5C%2Fpii%5C%2FS1071909116300353%26%23039%3B%26gt%3Bhttp%3A%5C%2F%5C%2Flinkinghub.elsevier.com%5C%2Fretrieve%5C%2Fpii%5C%2FS1071909116300353%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Diseases%20of%20the%20Synaptic%20Vesicle%3A%20A%20Potential%20New%20Group%20of%20Neurometabolic%20Disorders%20Affecting%20Neurotransmission%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22E.%22%2C%22lastName%22%3A%22Cort%5Cu00e8s-Saladelafont%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22A.%22%2C%22lastName%22%3A%22Trist%5Cu00e1n-Noguero%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22R.%22%2C%22lastName%22%3A%22Artuch%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22X.%22%2C%22lastName%22%3A%22Altafaj%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22A.%22%2C%22lastName%22%3A%22Bay%5Cu00e8s%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22A.%22%2C%22lastName%22%3A%22Garc%5Cu00eda-Cazorla%22%7D%5D%2C%22abstractNote%22%3A%22The%20general%20concept%20of%20inborn%20error%20of%20metabolism%20is%20currently%20evolving%20into%20the%20interface%20between%20classical%20biochemistry%20and%20cellular%20biology.%20Basic%20neuroscience%20is%20providing%20increasing%20knowledge%20about%20the%20mechanisms%20of%20neurotransmission%20and%20novel%20related%20disorders%20are%20being%20described.%20There%20is%20a%20necessity%20of%20updating%20the%20classic%20concept%20of%20%26quot%3Binborn%20error%20of%20neurotransmitters%20%28NT%29%26quot%3B%20that%20considers%20mainly%20defects%20of%20synthesis%20and%20catabolism%20and%20transport%20of%20low%20weight%20NT%20molecules.%20Monogenic%20defects%20of%20the%20synaptic%20vesicle%20%28SV%29%2C%20and%20especially%20those%20affecting%20the%20SV%20cycle%20are%20a%20potential%20new%20group%20of%20NT%20disorders%20since%20they%20end%20up%20in%20abnormal%20NT%20turnover%20and%20release.%20The%20most%20common%20clinical%20manifestations%20include%20epilepsy%2C%20intellectual%20disability%2C%20autism%20and%20movement%20disorders%2C%20and%20are%20in%20the%20continuum%20symptoms%20of%20synaptopathies.%20Interestingly%2C%20brain%20malformations%20and%20neurodegenerative%20conditions%20are%20also%20present%20within%20SV%20diseases.%20Metabolomics%2C%20proteomics%2C%20and%20other%20-omic%20techniques%20probably%20will%20provide%20biomarkers%20and%20contribute%20to%20therapeutic%20targets%20in%20the%20future.%22%2C%22date%22%3A%2211%5C%2F2016%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1016%5C%2Fj.spen.2016.11.005%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Flinkinghub.elsevier.com%5C%2Fretrieve%5C%2Fpii%5C%2FS1071909116300353%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%2210719091%22%2C%22language%22%3A%22en%22%2C%22collections%22%3A%5B%22HMLTG4EP%22%2C%22PT8BRAHR%22%2C%22X39KP3EM%22%2C%22XJL5V5G5%22%5D%2C%22dateModified%22%3A%222026-07-15T23%3A29%3A34Z%22%7D%7D%2C%7B%22key%22%3A%22P3PK2UC5%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22van%20Egmond%20et%20al.%22%2C%22parsedDate%22%3A%222015%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3Bvan%20Egmond%20ME%2C%20Elting%20JWJ%2C%20Kuiper%20A%2C%20Zutt%20R%2C%20Heineman%20KR%2C%20Brouwer%20OF%2C%20et%20al.%20Myoclonus%20in%20childhood-onset%20neurogenetic%20disorders%3A%20The%20importance%20of%20early%20identification%20and%20treatment.%20European%20Journal%20of%20Paediatric%20Neurology%20%5BInternet%5D.%202015%20%5Bcited%202016%20Oct%2014%5D%3B19%286%29%3A726%26%23x2013%3B9.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttp%3A%5C%2F%5C%2Flinkinghub.elsevier.com%5C%2Fretrieve%5C%2Fpii%5C%2FS1090379815001312%26%23039%3B%26gt%3Bhttp%3A%5C%2F%5C%2Flinkinghub.elsevier.com%5C%2Fretrieve%5C%2Fpii%5C%2FS1090379815001312%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Myoclonus%20in%20childhood-onset%20neurogenetic%20disorders%3A%20The%20importance%20of%20early%20identification%20and%20treatment%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Martje%20E.%22%2C%22lastName%22%3A%22van%20Egmond%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Jan%20Willem%20J.%22%2C%22lastName%22%3A%22Elting%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Anouk%22%2C%22lastName%22%3A%22Kuiper%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Rodi%22%2C%22lastName%22%3A%22Zutt%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Kirsten%20R.%22%2C%22lastName%22%3A%22Heineman%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Oebele%20F.%22%2C%22lastName%22%3A%22Brouwer%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Deborah%20A.%22%2C%22lastName%22%3A%22Sival%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Michel%20A.%22%2C%22lastName%22%3A%22Willemsen%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Marina%20A.J.%22%2C%22lastName%22%3A%22Tijssen%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Tom%20J.%22%2C%22lastName%22%3A%22de%20Koning%22%7D%5D%2C%22abstractNote%22%3A%22In%20clinical%20practice%2C%20myoclonus%20in%20childhood-onset%20neurogenetic%20disorders%20frequently%20remains%20unrecognized%2C%20because%20it%20is%20often%20overshadowed%20by%20other%20neurological%20features.%20Since%20treatment%20can%20lead%20to%20significant%20functional%20improvement%2C%20accurate%20phenotyping%20is%20essential.%20To%20demonstrate%20the%20importance%20of%20early%20identification%20and%20treatment%2C%20we%20report%20on%20four%20patients%20with%20various%20childhood-onset%20neurogenetic%20disorders%20suffering%20from%20myoclonus.%22%2C%22date%22%3A%2211%5C%2F2015%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1016%5C%2Fj.ejpn.2015.07.003%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Flinkinghub.elsevier.com%5C%2Fretrieve%5C%2Fpii%5C%2FS1090379815001312%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%2210903798%22%2C%22language%22%3A%22en%22%2C%22collections%22%3A%5B%22GFTTRZ76%22%5D%2C%22dateModified%22%3A%222026-07-15T23%3A29%3A13Z%22%7D%7D%2C%7B%22key%22%3A%22NSGZSHEN%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Gross%20and%20Grossman%22%2C%22parsedDate%22%3A%222008%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BGross%20RG%2C%20Grossman%20M.%20Update%20on%20apraxia.%20Current%20neurology%20and%20neuroscience%20reports.%202008%3B8%286%29%3A490%26%23x2013%3B6.%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Update%20on%20apraxia%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22R.%20G%22%2C%22lastName%22%3A%22Gross%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22M.%22%2C%22lastName%22%3A%22Grossman%22%7D%5D%2C%22abstractNote%22%3A%22Apraxia%20is%20classically%20defined%20as%20difficulty%20performing%20learned%2C%20skilled%20gestures.%20In%20this%20review%2C%20we%20describe%20the%20range%20of%20motor%20impairments%20classified%20as%20apraxia%2C%20focusing%20on%20ideomotor%20limb%20apraxia.%20We%20present%20several%20prominent%20models%20of%20praxis%20to%20explain%20the%20variety%20of%20difficulties%20seen%20in%20patients%20with%20apraxia.%20We%20also%20discuss%20the%20large-scale%20frontal-parietal-basal%20ganglia%20network%20thought%20to%20underlie%20praxis.%20In%20this%20context%2C%20we%20highlight%20the%20common%20occurrence%20of%20limb%20apraxia%20in%20corticobasal%20degeneration%2C%20a%20neurodegenerative%20condition%20characterized%20by%20frontal%2C%20parietal%2C%20and%20basal%20ganglia%20disease.%22%2C%22date%22%3A%222008%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1007%5C%2Fs11910-008-0078-y%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%22%22%2C%22language%22%3A%22%22%2C%22collections%22%3A%5B%22T5K9MLH4%22%5D%2C%22dateModified%22%3A%222026-07-15T23%3A28%3A54Z%22%7D%7D%2C%7B%22key%22%3A%22NME9SUCX%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Desai%20and%20Mullins%22%2C%22parsedDate%22%3A%222014-03%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BDesai%20NK%2C%20Mullins%20ME.%20An%20Imaging%20Approach%20to%20Diffuse%20White%20Matter%20Changes.%20Radiologic%20Clinics%20of%20North%20America%20%5BInternet%5D.%202014%20Mar%20%5Bcited%202014%20Apr%2028%5D%3B52%282%29%3A263%26%23x2013%3B78.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttp%3A%5C%2F%5C%2Fwww.sciencedirect.com%5C%2Fscience%5C%2Farticle%5C%2Fpii%5C%2FS0033838913002133%26%23039%3B%26gt%3Bhttp%3A%5C%2F%5C%2Fwww.sciencedirect.com%5C%2Fscience%5C%2Farticle%5C%2Fpii%5C%2FS0033838913002133%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22An%20Imaging%20Approach%20to%20Diffuse%20White%20Matter%20Changes%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Nilesh%20K.%22%2C%22lastName%22%3A%22Desai%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Mark%20E.%22%2C%22lastName%22%3A%22Mullins%22%7D%5D%2C%22abstractNote%22%3A%22White%20matter%20disorders%20represent%20a%20large%2C%20heterogeneous%20group%20of%20disorders%20that%20span%20the%20continuum%20of%20congenital%20metabolic%20disorders%20to%20acquired%20processes%2C%20such%20as%20chronic%20ischemic%20microvascular%20white%20matter%20disease.%20Magnetic%20resonance%20imaging%20has%20dramatically%20revolutionized%20the%20diagnostic%20evaluation%20of%20patients%20with%20these%20disease%20processes.%22%2C%22date%22%3A%22Marzo%202014%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1016%5C%2Fj.rcl.2013.11.006%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Fwww.sciencedirect.com%5C%2Fscience%5C%2Farticle%5C%2Fpii%5C%2FS0033838913002133%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%220033-8389%22%2C%22language%22%3A%22%22%2C%22collections%22%3A%5B%225S44NYF2%22%5D%2C%22dateModified%22%3A%222026-07-15T23%3A28%3A27Z%22%7D%7D%2C%7B%22key%22%3A%22NIGD9SRH%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Pranzatelli%22%2C%22parsedDate%22%3A%222003%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BPranzatelli%20MR.%20Myoclonus%20in%20childhood.%20Seminars%20in%20pediatric%20neurology%20%5BInternet%5D.%202003%20%5Bcited%202017%20Sept%2019%5D%3B10%3A41%26%23x2013%3B51.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttp%3A%5C%2F%5C%2Fwww.sciencedirect.com%5C%2Fscience%5C%2Farticle%5C%2Fpii%5C%2FS1071909102000086%26%23039%3B%26gt%3Bhttp%3A%5C%2F%5C%2Fwww.sciencedirect.com%5C%2Fscience%5C%2Farticle%5C%2Fpii%5C%2FS1071909102000086%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Myoclonus%20in%20childhood%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Michael%20R.%22%2C%22lastName%22%3A%22Pranzatelli%22%7D%5D%2C%22abstractNote%22%3A%22The%20term%20%26quot%3Bmyoclonus%26quot%3B%20sounds%20esoteric%2C%20yet%20it%20is%20part%20of%20our%20normal%20physiology%2C%20occurring%20as%20a%20muscle%20jerk%20on%20drowsiness%20or%20falling%20asleep%2C%20during%20rapid%20eye%20movement%20%28REM%29%20sleep%2C%20and%20as%20hiccoughs.%20Myoclonus%20is%20also%20a%20developmental%20feature%20of%20the%20human%20nervous%20system%2C%20comprising%20some%20of%20the%20earliest%20fetal%20movements.%20In%20pathologic%20settings%2C%20myoclonus%20may%20be%20the%20only%20neurologic%20abnormality%2C%20as%20in%20essential%20myoclonus%2C%20but%20more%20often%20it%20is%20one%20symptom%20of%20a%20larger%20neurologic%20problem.%20The%20vast%20etiologic%20spectrum%20of%20symptomatic%20myoclonus%20can%20be%20bewildering%2C%20but%20defining%20the%20underlying%20problem%20may%20provide%20the%20opportunity%20to%20develop%20specific%20therapies.%20Otherwise%2C%20treatment%20is%20merely%20symptomatic.%20The%20approach%20to%20the%20patient%20should%20be%20to%20verify%20the%20nature%20of%20the%20movement%20disorder%20and%20establish%20a%20specific%20etiologic%20diagnosis.%20A%20battery%20of%20neurophysiologic%2C%20neuroradiologic%2C%20and%20other%20laboratory%20studies%20is%20needed%20to%20localize%20the%20origin%20of%20the%20myoclonus%20and%20identify%20causative%20lesions.%20Drug%20treatment%20is%20largely%20empiric%20but%20must%20be%20systematic%20and%20aimed%20at%20restoring%20activities%20of%20everyday%20living.%20Unlike%20in%20epilepsies%2C%20in%20myoclonus%20multiple%20drugs%20usually%20must%20be%20combined%20to%20attain%20functional%20improvement.%22%2C%22date%22%3A%222003%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1016%5C%2FS1071-9091%2802%2900008-6%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Fwww.sciencedirect.com%5C%2Fscience%5C%2Farticle%5C%2Fpii%5C%2FS1071909102000086%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%22%22%2C%22language%22%3A%22%22%2C%22collections%22%3A%5B%224F4AKIJ8%22%5D%2C%22dateModified%22%3A%222026-07-15T23%3A27%3A59Z%22%7D%7D%2C%7B%22key%22%3A%22NCB8QZHI%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Geyer%20and%20Bressman%22%2C%22parsedDate%22%3A%222006%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BGeyer%20HL%2C%20Bressman%20SB.%20The%20diagnosis%20of%20dystonia.%20The%20Lancet%20Neurology.%202006%3B5%289%29%3A780%26%23x2013%3B90.%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22The%20diagnosis%20of%20dystonia%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22H.L.%22%2C%22lastName%22%3A%22Geyer%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22S.B.%22%2C%22lastName%22%3A%22Bressman%22%7D%5D%2C%22abstractNote%22%3A%22Dystonia%20is%20a%20movement%20disorder%20with%20many%20presentations%20and%20diverse%20causes.%20A%20systematic%20approach%20to%20dystonia%20helps%20to%20ensure%20that%20patients%20with%20this%20disorder%20receive%20optimum%20care.%20This%20Review%20begins%20with%20a%20summary%20of%20the%20clinical%20features%20of%20dystonia%2C%20followed%20by%20a%20discussion%20of%20other%20disorders%20to%20be%20considered%20and%20excluded%20before%20assigning%20the%20diagnosis%20of%20dystonia.%20Next%2C%20we%20emphasise%20the%20importance%20of%20classifying%20dystonia%20along%20several%20dimensions%2C%20and%20we%20explain%20how%20doing%20so%20aids%20in%20narrowing%20the%20differential%20diagnosis.%20The%20more%20common%20forms%20of%20dystonia%20are%20discussed%20in%20detail.%20Finally%2C%20we%20describe%20how%20to%20apply%20the%20clinical%20information%20for%20selection%20of%20appropriate%20laboratory%20investigations.%22%2C%22date%22%3A%222006%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1016%5C%2FS1474-4422%2806%2970547-6%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%22%22%2C%22language%22%3A%22%22%2C%22collections%22%3A%5B%223PVRP6KU%22%5D%2C%22dateModified%22%3A%222026-07-15T23%3A27%3A32Z%22%7D%7D%5D%7D<\/span>\n\n\t\t\t\t
\n
\n
\n
1.<\/div>
Dharmadhikari AV, Myers CT, King KA, Mojarad B, Claire Hou YC, Liu J, et al. Current Status of Genetic Testing and Mosaic Variant Assessment in Somatic Overgrowth and Vascular Anomalies: Insights from the Cancer Genomics Consortium Working Group. Genetics in Medicine [Internet]. 2026 Aug 19 [cited 2026 Sept 1];102686. Available from: https:\/\/www.sciencedirect.com\/science\/article\/pii\/S109836002601004X<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
Keute M, Miller MT, Krishnan ML, Sadhwani A, Chamberlain S, Thibert RL, et al. Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairment. Mol Psychiatry [Internet]. 2021 July [cited 2026 Aug 25];26(7):3625\u201333. Available from: https:\/\/www.nature.com\/articles\/s41380-020-0858-6<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
Bhagwat C, Sankhyan N. Vitamin responsive conditions in pediatric neurology. Karnataka Paediatr J [Internet]. 2021 June 2 [cited 2026 Aug 25];36(1):42\u20138. Available from: https:\/\/iap-kpj.org\/vitamin-responsive-conditions-in-pediatric-neurology\/<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
Hartmann H. Critical vitamins not to forget in paediatric neurology. Journal of the Neurological Sciences [Internet]. 2023 Dec 1 [cited 2026 Aug 25];455. Available from: https:\/\/www.jns-journal.com\/article\/S0022-510X(23)00392-1\/fulltext<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
UBC Neuroanatomy [Internet]. [cited 2026 July 22]. Available from: https:\/\/www.neuroanatomy.ca\/<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
EBRAINS. Human Brain Atlas | EBRAINS [Internet]. [cited 2026 July 22]. Available from: https:\/\/ebrains.eu\/data-tools-services\/brain-atlases\/human-brain<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
Atlas of Functional Neuroanatomy [Internet]. [cited 2026 July 22]. Available from: https:\/\/www.atlasbrain.com\/<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
Witters P, Saada A, Honzik T, Tesarova M, Kleinle S, Horvath R, et al. Revisiting mitochondrial diagnostic criteria in the new era of genomics. Genet Med [Internet]. 2018 Apr [cited 2026 July 21];20(4):444\u201351. Available from: https:\/\/www.nature.com\/articles\/gim2017125<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
Wojcik MH, Reuter CM, Marwaha S, Mahmoud M, Duyzend MH, Barseghyan H, et al. Beyond the exome: What\u2019s next in diagnostic testing for Mendelian conditions. The American Journal of Human Genetics [Internet]. 2023 Aug 3 [cited 2026 July 21];110(8):1229\u201348. Available from: https:\/\/www.sciencedirect.com\/science\/article\/pii\/S0002929723002100<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
Nema S, Singhal R, Bharti PK, Nitika N. Malaria in pregnancy and its potential impact on neurodevelopment in children: a systematic review. Pediatr Res. 2025 Oct;98(4):1257\u201365.<\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
Gressens P. 1. The developing nervous system: A series of review articles. Mechanisms and disturbances of neuronal migration. Pediatric research [Internet]. 2000 [cited 2014 June 30];48(6):725\u201330. Available from: http:\/\/www.nature.com\/pr\/journal\/v48\/n6\/abs\/pr2000265a.html<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
Langley KG, Trau S, Bean LJH, Narravula A, Schrier Vergano SA. A 7-month-old male with Allan-Herndon-Dudley syndrome and the power of T3. American Journal of Medical Genetics Part A [Internet]. 2015 [cited 2017 Nov 3];167(5):1117\u201320. Available from: http:\/\/doi.wiley.com\/10.1002\/ajmg.a.36970<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
Thevathasan W, Gregory R. Deep brain stimulation for movement disorders. Practical neurology. 2010;10(1):16\u201326.<\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
Tristano AG. Neurological adverse events associated with anti-tumor necrosis factor alpha treatment. J Neurol [Internet]. 2010 [cited 2011 June 29];257(9):1421\u201331. Available from: http:\/\/www.springerlink.com\/content\/32042367g7x3l352\/<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
Sheridan MA, McLaughlin KA. Dimensions of early experience and neural development: deprivation and threat. Trends in Cognitive Sciences [Internet]. 2014 Jan 11 [cited 2014 Dec 7];18(11):580\u20135. Available from: http:\/\/www.cell.com\/article\/S1364661314002022\/abstract<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
Lange KW, Hauser J, Lange KM, Makulska-Gertruda E, Takano T, Takeuchi Y, et al. Utility of cognitive neuropsychological assessment in attention-deficit\/hyperactivity disorder. ADHD Attention Deficit and Hyperactivity Disorders [Internet]. 2014 [cited 2017 Mar 19];6(4):241\u20138. Available from: http:\/\/link.springer.com\/10.1007\/s12402-014-0132-3<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
Crow YJ, Manel N. Aicardi\u2013Gouti\u00e8res syndrome and the type I interferonopathies. Nature Reviews Immunology [Internet]. 2015 June 5 [cited 2016 Sept 5];15(7):429\u201340. Available from: http:\/\/www.nature.com\/doifinder\/10.1038\/nri3850<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
Liu P, Erez A, Nagamani SCS, Dhar SU, Ko\u0142odziejska KE, Dharmadhikari AV, et al. Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements. Cell [Internet]. 2011 Sept 16 [cited 2023 Mar 12];146(6):889\u2013903. Available from: https:\/\/www.cell.com\/cell\/abstract\/S0092-8674(11)00885-3<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, et al. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. The American Journal of Human Genetics [Internet]. 2017 Nov 2 [cited 2020 Jan 11];101(5):664\u201385. Available from: https:\/\/www.cell.com\/ajhg\/abstract\/S0002-9297(17)30377-4<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
Ellis CT, Turk-Browne NB. Infant fMRI: A Model System for Cognitive Neuroscience. Trends in Cognitive Sciences [Internet]. 2018 [cited 2018 July 9];22(5):375\u201387. Available from: http:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1364661318300184<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
Jackson JR, Eaton WW, Cascella NG, Fasano A, Kelly DL. Neurologic and Psychiatric Manifestations of Celiac Disease and Gluten Sensitivity. Psychiatric Quarterly [Internet]. 2012 [cited 2014 Aug 29];83(1):91\u2013102. Available from: http:\/\/link.springer.com\/10.1007\/s11126-011-9186-y<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
Rimkus C de M, Andrade CS, Leite C da C, McKinney AM, Lucato LT. Toxic Leukoencephalopathies, Including Drug, Medication, Environmental, and Radiation-Induced Encephalopathic Syndromes. Seminars in Ultrasound, CT and MRI [Internet]. 2014 [cited 2018 Jan 13];35(2):97\u2013117. Available from: http:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0887217113000863<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
Aldaz A, Ferriols R, Aumente D, Calvo MV, Farre MR, Garc\u00eda B, et al. Monitorizaci\u00f3n farmacocin\u00e9tica de antiepil\u00e9pticos. Farmacia Hospitalaria [Internet]. 2011 [cited 2015 Aug 8];35(6):326\u201339. Available from: http:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1130634311000560<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
Epilepsy and Neurodevelopmental Disorders [Internet]. Clinical Gate. 2015. Available from: https:\/\/clinicalgate.com\/epilepsy-and-neurodevelopmental-disorders\/<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
Metzker ML. Sequencing technologies \u2014 the next generation. Nature Reviews Genetics [Internet]. 2010 [cited 2016 Sept 30];11(1):31\u201346. Available from: http:\/\/www.nature.com\/doifinder\/10.1038\/nrg2626<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
Kerckhove KV, Diels M, Vanhaesebrouck S, Luyten K, Pyck N, De Meyer A, et al. Consensus on the guidelines for the dietary management of classical galactosemia. Clinical Nutrition ESPEN [Internet]. 2015 [cited 2016 July 24];10(1):e1\u20134. Available from: http:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2212826314000487<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
Bressman SB. Genetics of dystonia: an overview. Parkinsonism & related disorders [Internet]. 2007 [cited 2016 Mar 10];13:S347\u201355. Available from: http:\/\/www.sciencedirect.com\/science\/article\/pii\/S1353802008700294<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
Rehm HL. Disease-targeted sequencing: a cornerstone in the clinic. Nature Reviews Genetics [Internet]. 2013 Mar 12 [cited 2016 Sept 6];14(4):295\u2013300. Available from: http:\/\/www.nature.com\/doifinder\/10.1038\/nrg3463<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
Tarnopolsky M. Exercise Testing in Metabolic Myopathies. Physical Medicine and Rehabilitation Clinics of North America [Internet]. 2012 Feb 1 [cited 2019 Dec 15];23(1):173\u201386. Available from: http:\/\/www.sciencedirect.com\/science\/article\/pii\/S1047965111001100<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
Toledo-Alberola F, Betlloch-Mas I. Eritemas anulares en la infancia. Actas Dermo-Sifiliogr\u00e1ficas [Internet]. 2010 [cited 2014 Nov 3];101(6):473\u201384. Available from: http:\/\/www.actasdermo.org\/es\/eritemas-anulares-infancia\/articulo\/13154280\/<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
Schneider SA, Bhatia KP. Rare Causes of Dystonia Parkinsonism. Current Neurology and Neuroscience Reports [Internet]. 2010 Aug 7 [cited 2012 Mar 26];10(6):431\u20139. Available from: http:\/\/www.springerlink.com\/index\/10.1007\/s11910-010-0136-0<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
Continuum: Casos cl\u00ednicos - Patolog\u00eda Neurol\u00f3gica [Internet]. [cited 2026 July 13]. Available from: https:\/\/continuum.aeped.es\/courses\/info\/1279<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
Kobayashi M, Pascual-Leone A. Transcranial magnetic stimulation in neurology. The Lancet Neurology. 2003;2(3):145\u201356.<\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
Harrison AG, Wilson JB. Inattention and Dissociation: Overlapping Constructs? The ADHD Report [Internet]. 2005 June 1 [cited 2014 June 9];13(3):9\u201311. Available from: http:\/\/guilfordjournals.com\/doi\/abs\/10.1521\/adhd.2005.13.3.9<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
Campos-Castello J. Evaluaci\u00f3n neurol\u00f3gica de los trastornos del aprendizaje. Rev Neurol [Internet]. 1998 [cited 2016 Jan 29];27:280\u20135. Available from: http:\/\/www.neurologia.com\/pdf\/web\/27156\/f1560280.pdf<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
Mardis ER. DNA sequencing technologies: 2006\u20132016. Nat Protoc [Internet]. 2017 [cited 2019 Aug 31];12(2):213\u20138. Available from: http:\/\/www.nature.com\/articles\/nprot.2016.182<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
Parchi P, de Boni L, Saverioni D, Cohen ML, Ferrer I, Gambetti P, et al. Consensus classification of human prion disease histotypes allows reliable identification of molecular subtypes: an inter-rater study among surveillance centres in Europe and USA. Acta Neuropathologica [Internet]. 2012 [cited 2016 Jan 8];124(4):517\u201329. Available from: http:\/\/link.springer.com\/10.1007\/s00401-012-1002-8<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
Khadilkar S, Jaggi S, Patel B, Yadav R, Hanagandi P, Faria do Amaral LL. A practical approach to diseases affecting dentate nuclei. Clinical Radiology [Internet]. 2016 [cited 2017 Mar 27];71(1):107\u201319. Available from: http:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0009926015003840<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
Roongroj Bhidayasiri MD F, Md DT. Adult Onset Tic Disorder. In: Movement Disorders: A Video Atlas [Internet]. Humana Press; 2012 [cited 2013 Sept 13]. p. 236\u20137. (Current Clinical Neurology). Available from: http:\/\/link.springer.com\/chapter\/10.1007\/978-1-60327-426-5_108<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
Lenglet T, Camdessanch\u00e9 JP. Amyotrophic lateral sclerosis or not: Keys for the diagnosis. Revue Neurologique [Internet]. 2017 [cited 2017 May 25];173(5):280\u20137. Available from: http:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S003537871730471X<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, et al. ClinGen \u2014 The Clinical Genome Resource. New England Journal of Medicine [Internet]. 2015 May 27 [cited 2015 May 29];0(0):null. Available from: http:\/\/dx.doi.org\/10.1056\/NEJMsr1406261<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
Vaidya CJ. Neurodevelopmental Abnormalities in ADHD. In: Stanford C, Tannock R, editors. Behavioral Neuroscience of Attention Deficit Hyperactivity Disorder and Its Treatment [Internet]. Springer Berlin Heidelberg; 2012 [cited 2013 Sept 6]. p. 49\u201366. (Current Topics in Behavioral Neurosciences). Available from: http:\/\/link.springer.com\/chapter\/10.1007\/7854_2011_138<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
Jee YH, Baron J. The Biology of Stature. The Journal of Pediatrics [Internet]. 2016 [cited 2018 Mar 12];173:32\u20138. Available from: http:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022347616002912<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
Accardo J, Kammann H, Hoon Jr AH. Neuroimaging in cerebral palsy. The Journal of Pediatrics [Internet]. 2004 [cited 2016 Mar 10];145(2):S19\u201327. Available from: http:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022347604004147<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
Cort\u00e8s-Saladelafont E, Trist\u00e1n-Noguero A, Artuch R, Altafaj X, Bay\u00e8s A, Garc\u00eda-Cazorla A. Diseases of the Synaptic Vesicle: A Potential New Group of Neurometabolic Disorders Affecting Neurotransmission. Seminars in Pediatric Neurology [Internet]. 2016 [cited 2017 Nov 17];23(4):306\u201320. Available from: http:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1071909116300353<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
van Egmond ME, Elting JWJ, Kuiper A, Zutt R, Heineman KR, Brouwer OF, et al. Myoclonus in childhood-onset neurogenetic disorders: The importance of early identification and treatment. European Journal of Paediatric Neurology [Internet]. 2015 [cited 2016 Oct 14];19(6):726\u20139. Available from: http:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1090379815001312<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
Gross RG, Grossman M. Update on apraxia. Current neurology and neuroscience reports. 2008;8(6):490\u20136.<\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
Desai NK, Mullins ME. An Imaging Approach to Diffuse White Matter Changes. Radiologic Clinics of North America [Internet]. 2014 Mar [cited 2014 Apr 28];52(2):263\u201378. Available from: http:\/\/www.sciencedirect.com\/science\/article\/pii\/S0033838913002133<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
Pranzatelli MR. Myoclonus in childhood. Seminars in pediatric neurology [Internet]. 2003 [cited 2017 Sept 19];10:41\u201351. Available from: http:\/\/www.sciencedirect.com\/science\/article\/pii\/S1071909102000086<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
Geyer HL, Bressman SB. The diagnosis of dystonia. The Lancet Neurology. 2006;5(9):780\u201390.<\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div><\/div>\n<\/div><\/div>\n\n\n","protected":false},"excerpt":{"rendered":"

Technological evolution in genomics has a very fast speed and clinical guidelines become obsolete with respect to usual clinical practice, so that professionals frequently find themselves with questions that are difficult to answer. Much has happened since the 2003 AAN guidelines, in which it was proposed as the first step... <\/p>\n

Continue reading \"Clinical exome, first tier?\"<\/span><\/a><\/p>","protected":false},"author":1,"featured_media":7292,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"categories":[10],"tags":[],"class_list":["post-7286","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-neurogenetica","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/7286","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/comments?post=7286"}],"version-history":[{"count":8,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/7286\/revisions"}],"predecessor-version":[{"id":8408,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/7286\/revisions\/8408"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media\/7292"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media?parent=7286"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/categories?post=7286"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/tags?post=7286"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}