BFMF PCI Fine Motor Scale

The BFMF (Bimanual Fine Motor Function) is an instrument used to evaluate fine motor function in children with neurological disabilities. This scale allows for a detailed assessment of bimanual motor skills, which is crucial for the diagnosis and treatment of disorders such as Down syndrome, autism spectrum disorder (ASD), and other neurological disorders.

Diagnostic Criteria

La BFMF se basa en una serie de ítems que evalúan diferentes aspectos de la función motora fina, incluyendo la coordinación bimanual, el control de los dedos, la fuerza y la precisión. Cada ítem tiene un criterio específico para determinar si está dentro o fuera del rango normal. Por ejemplo, la coordinación bimanual evalúa la capacidad del niño para utilizar ambas manos juntas para realizar tareas complejas, mientras que el control de los dedos mide la habilidad de manipular objetos con precisión. La fuerza y la precisión se miden mediante la capacidad para realizar movimientos con fuerza suficiente y con precisión en diferentes posiciones.

Una interpretación cuidadosa de estos criterios puede ayudar a identificar patrones de déficit que son características específicas de ciertos trastornos neurológicos. Por ejemplo, un niño con síndrome de Down puede mostrar dificultades en la coordinación bimanual y en el control de los dedos, mientras que un niño con TEA puede presentar problemas de precisión y fuerza en el movimiento.

Evidence Development

La evidencia para la BFMF proviene de varios estudios que han evaluado su validez y fiabilidad en diferentes poblaciones. Estos estudios muestran que la BFMF es un instrumento confiable y válido para evaluar la función motora fina en niños con discapacidades neurológicas. Por ejemplo, un estudio publicado en la revista Developmental Medicine & Child Neurology (2019) demostró que la BFMF es un indicador sensible de la progresión de la enfermedad en niños con trastornos neurológicos.

Clinical Algorithm

El algoritmo clínico para utilizar la BFMF implica realizar una evaluación exhaustiva de los diferentes aspectos de la función motora fina. Se recomienda comenzar con una observación detallada del niño durante su juego y actividades diarias, seguido por una evaluación más formal utilizando la escala. Durante la evaluación, se deben observar signos como la postura, la coordinación, la fuerza y la precisión del movimiento. Este enfoque permite una comprensión integral de las habilidades motrices del niño y ayuda a identificar áreas de dificultad.

Un caso clínico típico podría ser un niño de 5 años con síndrome de Down. Durante la evaluación, se observaría que tiene dificultades en la coordinación bimanual y en el control de los dedos, lo que sugiere un déficit en las habilidades motoras finas. Este hallazgo puede apoyar la sospecha de un diagnóstico de síndrome de Down y guiar la planificación de intervenciones terapéuticas.

Practicalactical Recommendations

Practical recommendations for consultation include:

  • Comprehensive evaluation of fine motor function in children with neurological disabilities.
  • Use of the BFMF as a detailed evaluation tool.
  • Careful interpretation of the results to determine the child's level of bimanual motor skills.

Además, se recomienda documentar cuidadosamente los resultados de la evaluación para seguir el progreso del niño y ajustar el tratamiento según sea necesario.

Literature

[

19955111 1 vancouver 50 default 7306 https://neuropediatoolkit.org/wp-content/plugins/zotpress/
statussuccessupdateneededfalseinstancefalsemetarequest_last6350request_next50used_cachetruedatakeyIF8UV6LKlibraryid19955111metacreatorSummaryDharmadhikarietal.parsedDate2026-08-19numChildren2bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtDharmadhikariAVMyersCTKingKAMojaradBClaireHouYCLiuJetal.CurrentStatusofGeneticTestingandMosaicVariantAssessmentinSomaticOvergrowthandVascularAnomaliesInsightsfromtheCancerGenomicsConsortiumWorkingGroup.GeneticsinMedicineInternet.2026Aug19cited2026Sept1102686.Availablefromltaclass039zp-ItemURL039href039httpswww.sciencedirect.comsciencearticlepiiS109836002601004X039gthttpswww.sciencedirect.comsciencearticlepiiS109836002601004XltagtltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitleCurrentStatusofGeneticTestingandMosaicVariantAssessmentinSomaticOvergrowthandVascularAnomaliesInsightsfromtheCancerGenomicsConsortiumWorkingGroupcreatorscreatorTypeauthorfirstNameAvinashV.lastNameDharmadhikaricreatorTypeauthorfirstNameCandaceT.lastNameMyerscreatorTypeauthorfirstNameKatherineA.lastNameKingcreatorTypeauthorfirstNameBaharehlastNameMojaradcreatorTypeauthorfirstNameYing-ChenlastNameClaireHoucreatorTypeauthorfirstNameJielastNameLiucreatorTypeauthorfirstNamePatriciaV.lastNameHernandezcreatorTypeauthorfirstNameLeaF.lastNameSurreycreatorTypeauthorfirstNameKevinE.lastNameFishercreatorTypeauthorfirstNameAdriennelastNameHammillcreatorTypeauthorfirstNameDeniselastNameAdamscreatorTypeauthorfirstNameCatelastNamePaschalcreatorTypeauthorfirstNameThuyL.lastNamePhungcreatorTypeauthorfirstNameCatherinelastNameCottrellcreatorTypeauthorfirstNameYanglastNameCaoabstractNoteSomaticovergrowthandvascularanomaliesareoftenpresentatbirthbutmayonlybeclinicallyrecognizedlaterinlife.Affectedtissuescommonlyincludeveinsandarteriesskinadiposetissueboneandbrainresultinginabroadphenotypicspectrumencompassingvascularmalformationslipomatousandmelanocyticnevussyndromesskeletalabnormalitiesandbrainmalformations.Theseconditionsaretypicallycausedbypostzygoticvariantspresentinasubsetofcellsduetomosaicism.Thedevelopmentaltimingandcelllineagesinvolveddeterminetheextentanddistributionofaffectedtissues.Whilegermlinevariantsandtheirclinicalconsequencesarewellcharacterizedtheimpactofsomaticmosaicvariantsremainslesswellunderstood.Becausethesevariantsareoftenabsentorpresentatverylowlevelsinbloodsensitiveassaysandanalysisofaffectedtissuesarerequiredfordetection.Advancesinhigh-depthnext-generationsequencinghaveenabledreliableidentificationoflow-levelmosaicvariantsandarecentraltothegeneticdiagnosisofthesedisorders.NumerouscausativegeneshavebeendescribedmostnotablyactivatingvariantsinthePI3Ku2013MTORandRASu2013MAPKpathways.GenetictestingprovidesdiagnosticconfirmationinformsprognosisandrecurrenceriskandinsomecasesenablestargetedtherapysuchasalpelisibforPIK3CA-relatedovergrowthspectrum.Howevertestingstrategiesvaryacrosslaboratoriesingenepanelcontentsequencingdepthandtissuerequirementsleadingtoinconsistentdiagnosticapproaches.Thisreviewsummarizesknowncausativegenescurrenttestingmethodologiesvariantinterpretationandreportingpracticesmajorgenomicalterationclassesandrecurrenthotspotvariantsandhighlightskeyknowledgegapsfromclinicalandlaboratoryperspectives.date2026-08-19sectionpartNumberpartTitleDOI10.1016j.gim.2026.102686citationKeyurlhttpswww.sciencedirect.comsciencearticlepiiS109836002601004XPMIDPMCIDISSN1098-3600languagecollectionsRW3UYKV2dateModified2026-09-01T185257ZkeyPEVWUD5Nlibraryid19955111metacreatorSummaryKeuteetal.parsedDate2021-07numChildren1bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtKeuteMMillerMTKrishnanMLSadhwaniAChamberlainSThibertRLetal.Angelmansyndromegenotypesmanifestvaryingdegreesofclinicalseverityanddevelopmentalimpairment.MolPsychiatryInternet.2021Julycited2026Aug252673625x201333.Availablefromltaclass039zp-ItemURL039href039httpswww.nature.comarticless41380-020-0858-6039gthttpswww.nature.comarticless41380-020-0858-6ltagtltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitleAngelmansyndromegenotypesmanifestvaryingdegreesofclinicalseverityanddevelopmentalimpairmentcreatorscreatorTypeauthorfirstNameMariuslastNameKeutecreatorTypeauthorfirstNameMeghanT.lastNameMillercreatorTypeauthorfirstNameMichelleL.lastNameKrishnancreatorTypeauthorfirstNameAnjalilastNameSadhwanicreatorTypeauthorfirstNameStormylastNameChamberlaincreatorTypeauthorfirstNameRonaldL.lastNameThibertcreatorTypeauthorfirstNameWen-HannlastNameTancreatorTypeauthorfirstNameLynneM.lastNameBirdcreatorTypeauthorfirstNameJoergF.lastNameHippabstractNoteAngelmanSyndromeASisasevereneurodevelopmentaldisorderduetoimpairedexpressionofUBE3Ainneurons.ThereareseveralgeneticmechanismsthatimpairUBE3Aexpressionbuttheydifferinhowneighboringgenesonchromosome15at15q11u2013q13areaffected.Thereisevidencethatdifferentgeneticsubtypespresentwithdifferentclinicalseveritybutasystematicquantitativeinvestigationislacking.HereweanalyzenaturalhistorydataonalargesampleofindividualswithASnu2009u2009250848assessmentsincludingclinicalscalesthatquantifydevelopmentofmotorcognitiveandlanguageskillsBayleyScalesofInfantDevelopmentThirdEditionPreschoolLanguageScaleFourthEditionadaptivebehaviorVinelandAdaptiveBehavioralScalesSecondEditionandAS-specificsymptomsASClinicalSeverityScale.WefoundthatclinicalseverityascapturedbythesescalesdiffersbetweengeneticsubtypesindividualswithUBE3ApathogenicvariantsandimprintingdefectsIPDarelessaffectedthanindividualswithuniparentalpaternaldisomyUPDofthosewithUBE3Apathogenicvariantsindividualswithtruncatingmutationsaremoreimpairedthanthosewithmissensemutations.IndividualswithadeletionthatencompassesUBE3AandothergenesaremostimpairedbutincontrasttopreviousworkwefoundlittleevidenceforaninfluenceofdeletionlengthclassIvs.IIonseverityofmanifestations.TheresultsofthissystematicanalysishighlighttherelevanceofgenomicregionsbeyondUBE3AascontributingfactorsintheASphenotypeandprovideimportantinformationforthedevelopmentofnewtherapiesforAS.Moregenerallythisworkexemplifieshowincreasinggeneticirregularitiesarereflectedinclinicalseverity.date2021-07sectionpartNumberpartTitleDOI10.1038s41380-020-0858-6citationKeyurlhttpswww.nature.comarticless41380-020-0858-6PMIDPMCIDISSN1476-5578languageencollectionsDIEGGHX5dateModified2026-08-25T052849Zkey3PGSGXJ3libraryid19955111metacreatorSummaryBhagwatandSankhyanparsedDate2021-06-02numChildren2bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtBhagwatCSankhyanN.Vitaminresponsiveconditionsinpediatricneurology.KarnatakaPaediatrJInternet.2021June2cited2026Aug2536142x20138.Availablefromltaclass039zp-ItemURL039href039httpsiap-kpj.orgvitamin-responsive-conditions-in-pediatric-neurology039gthttpsiap-kpj.orgvitamin-responsive-conditions-in-pediatric-neurologyltagtltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitleVitaminresponsiveconditionsinpediatricneurologycreatorscreatorTypeauthorfirstNameChandanalastNameBhagwatcreatorTypeauthorfirstNameNaveenlastNameSankhyanabstractNoteVitaminresponsiveconditionscanbeeitherduetoinheriteddefectsinthemetabolicpathwaysresultinginvitamindependencyorduetoacquireddeficiencystates.DuetowidespreadmalnutritionandpredominantlyvegetarianpopulationinIndiavitamindeficiencystateisquitecommonandearlyidentificationisessential.Inheriteddefectsiftreatedearlierleadtoreducedmorbidityandmortalityandimprovementinlong-termneurocognitiveoutcomes.Variousvitaminresponsiveconditionsinpediatricneurologyshallbediscussedinthisreview.InfantilepresentationofthiaminedeficiencyresultsinberiberiandinadultsitleadstoWernickeu2019sencephalopathyandKorsakoffpsychosis.Biotinthiamine-responsivebasalgangliadiseaseisadefectofthiaminetransporter2whichleadstoneuroregressionandcharacteristicneuroimagingfeaturesofbasalgangliainvolvementitrespondstohighdosesofbiotinandthiamine.Riboflavinisanenzymeinvolvedinmitochondrialenergysynthesisandissupplementedinvariousmitochondrialmetabolicconditions.Brown-Vialetto-VanLaeresyndromeisprogressivepontobulbarpalsycausedbydefectinriboflavintransportersresponsivetohighdosesofriboflavin.Pyridoxineresponsiveepilepsypresentswithpharmacoresistantseizuresinneonatalorearlyinfantileagebiotinidasedeficiencyalsopresentswithsimilarneurologicalmanifestationsbuttypicalcutaneoussymptomsofrashandseborrheicdermatitisalsooccur.BothareepilepticencephalopathiesandanyinfantpresentingwithepilepsynotrespondingtoconventionalAEDsmustbegivenatrialofpyridoxinebiotinandfolinicacid.VitaminB12responsiveconditionscanincludedeficiencystatessuchasthosemanifestingwithperipheralneuropathyandthesyndromeofinfantiletremorsyndromedevelopmentaldelayorregressiontremorsandmegaloblasticanemiaaswellasinheriteddisordersofhomocysteineandcobalaminmetabolism.ThesedisordersaredifferentiatedonthebasisofclinicalphenotypeandlaboratoryparametersserumB12homocysteinelevelsmethylmalonicacidlevelsetc..InfantiletremorsyndromerespondsdrasticallytomegadosesofVitaminB12andothermultivitamins.VitaminEdeficiencycausesataxiawithVitaminEdeficiencyothervitaminswhichcanneurologicalsymptomsincludeVitaminCpseudoparalysisandVitaminKcentralnervoussystembleeds.Itisimperativeforapracticingpediatriciantobewellversedwiththeseconditionsasthesearepotentiallytreatableconditions.date20210602sectionpartNumberpartTitleDOI10.25259KPJ_34_2020citationKeyurlhttpsiap-kpj.orgvitamin-responsive-conditions-in-pediatric-neurologyPMIDPMCIDISSN0975-5152languageencollectionsDLMVVP9HdateModified2026-08-25T052836Zkey6G4Z6KAPlibraryid19955111metacreatorSummaryHartmannparsedDate2023-12-01numChildren1bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtHartmannH.Criticalvitaminsnottoforgetinpaediatricneurology.JournaloftheNeurologicalSciencesInternet.2023Dec1cited2026Aug25455.Availablefromltaclass039zp-ItemURL039href039httpswww.jns-journal.comarticleS0022-510X2300392-1fulltext039gthttpswww.jns-journal.comarticleS0022-510X2300392-1fulltextltagtltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitleCriticalvitaminsnottoforgetinpaediatricneurologycreatorscreatorTypeauthorfirstNameHanslastNameHartmannabstractNotedate2023-12-01sectionpartNumberpartTitleDOI10.1016j.jns.2023.120931citationKeyurlhttpswww.jns-journal.comarticleS0022-510X2300392-1fulltextPMIDPMCIDISSN0022-510X1878-5883languageEnglishcollectionsDLMVVP9HdateModified2026-08-25T052829ZkeyBAF84WIPlibraryid19955111metanumChildren0bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtUBCNeuroanatomyInternet.cited2026July22.Availablefromltaclass039zp-ItemURL039href039httpswww.neuroanatomy.ca039gthttpswww.neuroanatomy.caltagtltdivgtnltdivgtnltdivgtdataitemTypewebpagetitleUBCNeuroanatomycreatorsabstractNotedateDOIcitationKeyurlhttpswww.neuroanatomy.calanguagecollections3ERJF68FdateModified2026-07-22T220542Zkey8TFCI9MDlibraryid19955111metacreatorSummaryEBRAINSnumChildren1bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtEBRAINS.HumanBrainAtlasEBRAINSInternet.cited2026July22.Availablefromltaclass039zp-ItemURL039href039httpsebrains.eudata-tools-servicesbrain-atlaseshuman-brain039gthttpsebrains.eudata-tools-servicesbrain-atlaseshuman-brainltagtltdivgtnltdivgtnltdivgtdataitemTypewebpagetitleHumanBrainAtlasEBRAINScreatorscreatorTypeauthorfirstNamelastNameEBRAINSabstractNoteAdetailedatlasofthehumanbrainthatintegratesinformationonbrainstructurefunctionandconnectivityacrossmultiplemodalitiesandspatialu2026dateDOIcitationKeyurlhttpsebrains.eudata-tools-servicesbrain-atlaseshuman-brainlanguageencollections3ERJF68FdateModified2026-07-22T220519ZkeyQHSHWH2Tlibraryid19955111metanumChildren1bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtAtlasofFunctionalNeuroanatomyInternet.cited2026July22.Availablefromltaclass039zp-ItemURL039href039httpswww.atlasbrain.com039gthttpswww.atlasbrain.comltagtltdivgtnltdivgtnltdivgtdataitemTypewebpagetitleAtlasofFunctionalNeuroanatomycreatorsabstractNotedateDOIcitationKeyurlhttpswww.atlasbrain.comlanguagecollections3ERJF68FdateModified2026-07-22T220516ZkeyP9JBB9J2libraryid19955111metacreatorSummaryWittersetal.parsedDate2018-04numChildren2bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtWittersPSaadaAHonzikTTesarovaMKleinleSHorvathRetal.Revisitingmitochondrialdiagnosticcriteriaintheneweraofgenomics.GenetMedInternet.2018Aprcited2026July21204444x201351.Availablefromltaclass039zp-ItemURL039href039httpswww.nature.comarticlesgim2017125039gthttpswww.nature.comarticlesgim2017125ltagtltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitleRevisitingmitochondrialdiagnosticcriteriaintheneweraofgenomicscreatorscreatorTypeauthorfirstNamePeterlastNameWitterscreatorTypeauthorfirstNameAnnlastNameSaadacreatorTypeauthorfirstNameTomaslastNameHonzikcreatorTypeauthorfirstNameMarketalastNameTesarovacreatorTypeauthorfirstNameStephanielastNameKleinlecreatorTypeauthorfirstNameRitalastNameHorvathcreatorTypeauthorfirstNameAmylastNameGoldsteincreatorTypeauthorfirstNameEvalastNameMoravaabstractNoteDiagnosingprimarymitochondrialdiseasesMDsischallenginginclinicalpractice.ThemitochondrialdiseasecriteriaMDChavebeendevelopedtoquantifytheclinicalpictureandevaluatetheprobabilityofanunderlyingMDandtheneedforamusclebiopsy.Inthisnewgeneticerawithnext-generationsequencinginroutinepracticeweaimtovalidatethediagnosticvalueofMDC.date2018-04sectionpartNumberpartTitleDOI10.1038gim.2017.125citationKeyurlhttpswww.nature.comarticlesgim2017125PMIDPMCIDISSN1530-0366languageencollections8GVC4ES9dateModified2026-07-21T113629Zkey6WVLUE8Nlibraryid19955111metacreatorSummaryWojciketal.parsedDate2023-08-03numChildren1bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtWojcikMHReuterCMMarwahaSMahmoudMDuyzendMHBarseghyanHetal.BeyondtheexomeWhatx2019snextindiagnostictestingforMendelianconditions.TheAmericanJournalofHumanGeneticsInternet.2023Aug3cited2026July2111081229x201348.Availablefromltaclass039zp-ItemURL039href039httpswww.sciencedirect.comsciencearticlepiiS0002929723002100039gthttpswww.sciencedirect.comsciencearticlepiiS0002929723002100ltagtltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitleBeyondtheexomeWhatu2019snextindiagnostictestingforMendelianconditionscreatorscreatorTypeauthorfirstNameMonicaH.lastNameWojcikcreatorTypeauthorfirstNameChloeM.lastNameReutercreatorTypeauthorfirstNameShrutilastNameMarwahacreatorTypeauthorfirstNameMedhatlastNameMahmoudcreatorTypeauthorfirstNameMichaelH.lastNameDuyzendcreatorTypeauthorfirstNameHayklastNameBarseghyancreatorTypeauthorfirstNameBolastNameYuancreatorTypeauthorfirstNamePhilipM.lastNameBoonecreatorTypeauthorfirstNameEmilyE.lastNameGroopmancreatorTypeauthorfirstNameEmmanuu00e8leC.lastNameDu00e9lotcreatorTypeauthorfirstNameDeeptilastNameJaincreatorTypeauthorfirstNameAlbalastNameSanchis-JuancreatorTypeauthorfirstNameSiwaarlastNameAbouhalacreatorTypeauthorfirstNameJessicalastNameAlbertcreatorTypeauthorfirstNameMiguellastNameAlmalvezcreatorTypeauthorfirstNameRaquellastNameAlvarezcreatorTypeauthorfirstNameMutazlastNameAmincreatorTypeauthorfirstNamePeterlastNameAndersoncreatorTypeauthorfirstNameSwarooplastNameAradhyacreatorTypeauthorfirstNameEuanlastNameAshleycreatorTypeauthorfirstNameThemistocleslastNameAssimescreatorTypeauthorfirstNameLightlastNameAurigacreatorTypeauthorfirstNameChristinalastNameAustin-TsecreatorTypeauthorfirstNameMikelastNameBamshadcreatorTypeauthorfirstNameHayklastNameBarseghyancreatorTypeauthorfirstNameSamanthalastNameBaxtercreatorTypeauthorfirstNameSairamlastNameBeheracreatorTypeauthorfirstNameShaghayeghlastNameBeheshticreatorTypeauthorfirstNameGilllastNameBejeranocreatorTypeauthorfirstNameSethlastNameBergercreatorTypeauthorfirstNameJonlastNameBernsteincreatorTypeauthorfirstNameSabrinalastNameBestcreatorTypeauthorfirstNameBenjaminlastNameBlankenmeistercreatorTypeauthorfirstNameElizabethlastNameBluecreatorTypeauthorfirstNameEriclastNameBoerwinklecreatorTypeauthorfirstNameEmilylastNameBonkowskicreatorTypeauthorfirstNameDevonlastNameBonnercreatorTypeauthorfirstNamePhiliplastNameBoonecreatorTypeauthorfirstNameMiriamlastNameBornhorstcreatorTypeauthorfirstNameTugcelastNameBozkurt-YozgatlicreatorTypeauthorfirstNameHarrisonlastNameBrandcreatorTypeauthorfirstNameKatilastNameBuckinghamcreatorTypeauthorfirstNameDaniellastNameCalamecreatorTypeauthorfirstNameSilvialastNameCasadeicreatorTypeauthorfirstNameLisalastNameChadwickcreatorTypeauthorfirstNameClarisalastNameChavezcreatorTypeauthorfirstNameZiweilastNameChencreatorTypeauthorfirstNameIvanlastNameChinncreatorTypeauthorfirstNameJessicalastNameChongcreatorTypeauthorfirstNameZeyneplastNameCoban-AkdemircreatorTypeauthorfirstNameAndreaJ.lastNameCohencreatorTypeauthorfirstNameSarahlastNameConnercreatorTypeauthorfirstNameMatthewlastNameConomoscreatorTypeauthorfirstNameKarenlastNameCovelercreatorTypeauthorfirstNameYaAllenlastNameCuicreatorTypeauthorfirstNameSaralastNameCurrincreatorTypeauthorfirstNameRobertlastNameDabercreatorTypeauthorfirstNameZainlastNameDardascreatorTypeauthorfirstNameColleenlastNameDaviscreatorTypeauthorfirstNameMoezlastNameDawoodcreatorTypeauthorfirstNameIvanlastNamedeDioscreatorTypeauthorfirstNameCelinelastNamedeEschcreatorTypeauthorfirstNameMeghanlastNameDelaneycreatorTypeauthorfirstNameEmmanuu00e8lelastNameDu00e9lotcreatorTypeauthorfirstNameStephanielastNameDiTroiacreatorTypeauthorfirstNameHarshalastNameDoddapanenicreatorTypeauthorfirstNameHaoweilastNameDucreatorTypeauthorfirstNameRuizhilastNameDuancreatorTypeauthorfirstNameShannonlastNameDugan-PerezcreatorTypeauthorfirstNameNhatlastNameDuongcreatorTypeauthorfirstNameMichaellastNameDuyzendcreatorTypeauthorfirstNameEvanlastNameEichlercreatorTypeauthorfirstNameSaralastNameEmamicreatorTypeauthorfirstNameJawidlastNameFatihcreatorTypeauthorfirstNameJamielastNameFrasercreatorTypeauthorfirstNameVincentlastNameFusarocreatorTypeauthorfirstNameMirandalastNameGaleycreatorTypeauthorfirstNameVijaylastNameGaneshcreatorTypeauthorfirstNameKiranlastNameGarimellacreatorTypeauthorfirstNameRichardlastNameGibbscreatorTypeauthorfirstNameCaseylastNameGiffordcreatorTypeauthorfirstNameAmylastNameGinsburgcreatorTypeauthorfirstNamePagu00e9lastNameGoddardcreatorTypeauthorfirstNameStephanielastNameGogartencreatorTypeauthorfirstNameNikhitalastNameGogatecreatorTypeauthorfirstNameWilliamlastNameGordoncreatorTypeauthorfirstNameJohnE.lastNameGorzynskicreatorTypeauthorfirstNameWilliamlastNameGreenleafcreatorTypeauthorfirstNameChristopherlastNameGrochowskicreatorTypeauthorfirstNameEmilylastNameGroopmancreatorTypeauthorfirstNameRodrigolastNameGuarischiSousacreatorTypeauthorfirstNameSannalastNameGudmundssoncreatorTypeauthorfirstNameAshimalastNameGulaticreatorTypeauthorfirstNameDaniellastNameGuocreatorTypeauthorfirstNameWalkerlastNameHalecreatorTypeauthorfirstNameStaceylastNameHallcreatorTypeauthorfirstNameWilliamlastNameHarveycreatorTypeauthorfirstNameMeganlastNameHawleycreatorTypeauthorfirstNameBenlastNameHeavnercreatorTypeauthorfirstNameIsabellalastNameHermancreatorTypeauthorfirstNameMarthalastNameHorike-PynecreatorTypeauthorfirstNameJianhonglastNameHucreatorTypeauthorfirstNameYongqinglastNameHuangcreatorTypeauthorfirstNameJameslastNameHwangcreatorTypeauthorfirstNameGaillastNameJarvikcreatorTypeauthorfirstNameTannerlastNameJensencreatorTypeauthorfirstNameShalinilastNameJhangianicreatorTypeauthorfirstNameDavidlastNameJimenez-MoralescreatorTypeauthorfirstNameChristopherlastNameJincreatorTypeauthorfirstNameAhmedK.lastNameSaadcreatorTypeauthorfirstNameAmandalastNameKahn-KirbycreatorTypeauthorfirstNameJessicalastNameKaincreatorTypeauthorfirstNameParneetlastNameKaurcreatorTypeauthorfirstNameLauralastNameKeehancreatorTypeauthorfirstNameSusanlastNameKnoblachcreatorTypeauthorfirstNameArthurlastNameKocreatorTypeauthorfirstNameJenneferlastNameKohlercreatorTypeauthorfirstNameAnshullastNameKundajecreatorTypeauthorfirstNameSoumyalastNameKunducreatorTypeauthorfirstNameSamuelM.lastNameLancastercreatorTypeauthorfirstNameKatielastNameLarssoncreatorTypeauthorfirstNameGabriellelastNameLemirecreatorTypeauthorfirstNameRichardlastNameLewiscreatorTypeauthorfirstNameWeilastNameLicreatorTypeauthorfirstNameYidanlastNameLicreatorTypeauthorfirstNamePengfeilastNameLiucreatorTypeauthorfirstNameJonathanlastNameLoTempiocreatorTypeauthorfirstNameJameslastNameLupskicreatorTypeauthorfirstNameJialanlastNameMacreatorTypeauthorfirstNameDaniellastNameMacArthurcreatorTypeauthorfirstNameMedhatlastNameMahmoudcreatorTypeauthorfirstNameNiravlastNameMalanicreatorTypeauthorfirstNameBrianlastNameMangilogcreatorTypeauthorfirstNameDanalastNameMaraficreatorTypeauthorfirstNameSofialastNameMarmolejoscreatorTypeauthorfirstNameDaniellastNameMartencreatorTypeauthorfirstNameEvalastNameMartinezcreatorTypeauthorfirstNameColbylastNameMarvincreatorTypeauthorfirstNameShrutilastNameMarwahacreatorTypeauthorfirstNameFrancescolastNameKumaraMastrorosacreatorTypeauthorfirstNameDenalastNameMataloncreatorTypeauthorfirstNameSusannelastNameMaycreatorTypeauthorfirstNameSeanlastNameMcGeecreatorTypeauthorfirstNameLaurenlastNameMeadorcreatorTypeauthorfirstNameHeatherlastNameMeffordcreatorTypeauthorfirstNameHectorlastNameRodrigoMendezcreatorTypeauthorfirstNameAlexanderlastNameMillercreatorTypeauthorfirstNameDannyE.lastNameMillercreatorTypeauthorfirstNameTadahirolastNameMitanicreatorTypeauthorfirstNameStephenlastNameMontgomerycreatorTypeauthorfirstNameHalaMohamedlastNameMoussacreatorTypeauthorfirstNameMarianalastNameMoysescreatorTypeauthorfirstNameChloelastNameMunderlohcreatorTypeauthorfirstNameDonnalastNameMuznycreatorTypeauthorfirstNameSarahlastNameNelsoncreatorTypeauthorfirstNameMatthewB.lastNameNeucreatorTypeauthorfirstNameJonathanlastNameNguyencreatorTypeauthorfirstNameThuy-miP.lastNameNguyencreatorTypeauthorfirstNameRobertlastNameNussbaumcreatorTypeauthorfirstNameKeithlastNameNykampcreatorTypeauthorfirstNameWilliamlastNameOCallaghancreatorTypeauthorfirstNameEmilylastNameOHeircreatorTypeauthorfirstNameMelanielastNameOLearycreatorTypeauthorfirstNameJerenlastNameOlsencreatorTypeauthorfirstNameIkeoluwalastNameOsei-OwusucreatorTypeauthorfirstNameAnnelastNameODonnell-LuriacreatorTypeauthorfirstNameEvinlastNamePadhicreatorTypeauthorfirstNameLynnlastNamePaiscreatorTypeauthorfirstNameMiaolastNamePancreatorTypeauthorfirstNamePiyushlastNamePanchalcreatorTypeauthorfirstNameKarynnelastNamePattersoncreatorTypeauthorfirstNameSheryllastNamePaynecreatorTypeauthorfirstNameDavutlastNamePehlivancreatorTypeauthorfirstNamePaullastNamePetrowskicreatorTypeauthorfirstNameAlicialastNamePhamcreatorTypeauthorfirstNameGeorgialastNamePitsavacreatorTypeauthorfirstNameAstarialastNamePodestacreatorTypeauthorfirstNameSarahlastNamePoncecreatorTypeauthorfirstNameJenniferlastNamePoseycreatorTypeauthorfirstNameJaimelastNameProssercreatorTypeauthorfirstNameThomaslastNameQuertermouscreatorTypeauthorfirstNameArchanalastNameRaicreatorTypeauthorfirstNameArunlastNameRamanicreatorTypeauthorfirstNameHeidilastNameRehmcreatorTypeauthorfirstNameChloelastNameReutercreatorTypeauthorfirstNameJasonlastNameReutercreatorTypeauthorfirstNameMatthewlastNameRichardsoncreatorTypeauthorfirstNameAndreslastNameRivera-MunozcreatorTypeauthorfirstNameOrianelastNameRubiocreatorTypeauthorfirstNameAnikolastNameSabocreatorTypeauthorfirstNameMonicalastNameSalanicreatorTypeauthorfirstNameKaitlinlastNameSamochacreatorTypeauthorfirstNameAlbalastNameSanchis-JuancreatorTypeauthorfirstNameSarahlastNameSavagecreatorTypeauthorfirstNameStuartlastNameScottcreatorTypeauthorfirstNameEvettelastNameScottcreatorTypeauthorfirstNameFritzlastNameSedlazeckcreatorTypeauthorfirstNameGulalailastNameShahcreatorTypeauthorfirstNameAlilastNameShojaiecreatorTypeauthorfirstNameMugdhalastNameSinghcreatorTypeauthorfirstNameJoshlastNameSmithcreatorTypeauthorfirstNameKevinlastNameSmithcreatorTypeauthorfirstNameHanalastNameSnowcreatorTypeauthorfirstNameMichaellastNameSnydercreatorTypeauthorfirstNameKaylalastNameSocarrascreatorTypeauthorfirstNameLealastNameStaritacreatorTypeauthorfirstNameBrigittelastNameStarkcreatorTypeauthorfirstNameSarahlastNameStentoncreatorTypeauthorfirstNameAndrewlastNameStergachiscreatorTypeauthorfirstNameAdriennelastNameStilpcreatorTypeauthorfirstNameLaksshmanlastNameSundaramcreatorTypeauthorfirstNameV.ReidlastNameSuttoncreatorTypeauthorfirstNameJui-ChenglastNameTaicreatorTypeauthorfirstNameMichaellastNameTalkowskicreatorTypeauthorfirstNameChristinalastNameTisecreatorTypeauthorfirstNameCatherinelastNameTongcreatorTypeauthorfirstNamePhiliplastNameTsaocreatorTypeauthorfirstNameRachellastNameUngarcreatorTypeauthorfirstNameGracelastNameVanNoycreatorTypeauthorfirstNameEriclastNameVilaincreatorTypeauthorfirstNameIsabellalastNameVoutoscreatorTypeauthorfirstNameKimlastNameWalkercreatorTypeauthorfirstNameBenlastNameWeisburdcreatorTypeauthorfirstNameJefflastNameWeisscreatorTypeauthorfirstNameChrislastNameWellingtoncreatorTypeauthorfirstNameZiminglastNameWengcreatorTypeauthorfirstNameEmilylastNameWestheimercreatorTypeauthorfirstNameMarshalastNameWheelercreatorTypeauthorfirstNameMatthewlastNameWheelercreatorTypeauthorfirstNameLaurenslastNameWielcreatorTypeauthorfirstNameMichaellastNameWilsoncreatorTypeauthorfirstNameMonicalastNameWojcikcreatorTypeauthorfirstNameQuennalastNameWongcreatorTypeauthorfirstNameIssaclastNameWongcreatorTypeauthorfirstNameChangruilastNameXiaocreatorTypeauthorfirstNameRachitalastNameYadavcreatorTypeauthorfirstNameQianlastNameYicreatorTypeauthorfirstNameBolastNameYuancreatorTypeauthorfirstNameJianhualastNameZhaocreatorTypeauthorfirstNameJimmylastNameZhencreatorTypeauthorfirstNameHarrylastNameZhoucreatorTypeauthorfirstNameLeaM.lastNameStaritacreatorTypeauthorfirstNameMichaellastNameTalkowskicreatorTypeauthorfirstNameStephenB.lastNameMontgomerycreatorTypeauthorfirstNameMichaelJ.lastNameBamshadcreatorTypeauthorfirstNameJessicaX.lastNameChongcreatorTypeauthorfirstNameMatthewT.lastNameWheelercreatorTypeauthorfirstNameSethI.lastNameBergercreatorTypeauthorfirstNameAnnelastNameODonnell-LuriacreatorTypeauthorfirstNameFritzJ.lastNameSedlazeckcreatorTypeauthorfirstNameDannyE.lastNameMillerabstractNoteDespiteadvancesinclinicalgenetictestingincludingtheintroductionofexomesequencingESmorethan50ofindividualswithasuspectedMendelianconditionlackaprecisemoleculardiagnosis.ClinicalevaluationisincreasinglyundertakenbyspecialistsoutsideofclinicalgeneticsoftenoccurringinatieredfashionandtypicallyendingafterES.Thecurrentdiagnosticratereflectsmultiplefactorsincludingtechnicallimitationsincompleteunderstandingofvariantpathogenicitymissinggenotype-phenotypeassociationscomplexgene-environmentinteractionsandreportingdifferencesbetweenclinicallabs.MaintainingaclearunderstandingoftherapidlyevolvinglandscapeofdiagnostictestsbeyondESandtheirlimitationspresentsachallengefornon-geneticsprofessionals.Newertestssuchasshort-readgenomeorRNAsequencingcanbechallengingtoorderandemergingtechnologiessuchasopticalgenomemappingandlong-readDNAsequencingarenotavailableclinically.Furthermorethereisnoclearguidanceonthenextbeststepsafterinconclusiveevaluation.Herewereviewwhyaclinicalgeneticevaluationmaybenegativediscussquestionstobeaskedinthissettingandprovideaframeworkforfurtherinvestigationincludingtheadvantagesanddisadvantagesofnewapproachesthatarenascentintheclinicalsphere.Wepresentaguideforthenextbeststepsafterinconclusivemoleculartestingbaseduponphenotypeandpriorevaluationincludingwhentoconsiderreferraltoresearchconsortiafocusedonelucidatingtheunderlyingcauseofrareunsolvedgeneticdisorders.date2023-08-03sectionpartNumberpartTitleDOI10.1016j.ajhg.2023.06.009citationKeyurlhttpswww.sciencedirect.comsciencearticlepiiS0002929723002100PMIDPMCIDISSN0002-9297languagecollections84TR57I6dateModified2026-07-21T113114ZkeyCNYADQ5Mlibraryid19955111metacreatorSummaryNemaetal.parsedDate2025-10numChildren1bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtNemaSSinghalRBhartiPKNitikaN.Malariainpregnancyanditspotentialimpactonneurodevelopmentinchildrenasystematicreview.PediatrRes.2025Oct9841257x201365.ltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitleMalariainpregnancyanditspotentialimpactonneurodevelopmentinchildrenasystematicreviewcreatorscreatorTypeauthorfirstNameShrikantlastNameNemacreatorTypeauthorfirstNameRichalastNameSinghalcreatorTypeauthorfirstNamePraveenKumarlastNameBharticreatorTypeauthorfirstNameNitikalastNameNitikaabstractNoteBACKGROUNDMalariaduringpregnancycanhaveadverseeffectsonfetaldevelopmentbutitsimpactonneurodevelopmentremainsunclear.Althoughsomestudieshaveexploredtheconsequencesofprenatalmalariagapspersistduetoinconsistenciesinexposuretimingassessmentmethodsandstudydesigns.nMETHODSThissystematicreviewhighlightedthegapsinsixstudiesselectedfromaninitialpoolof2029articlesofferingclearerinsightsintotheneurodevelopmentaloutcomesofprenatalmalariaexposure.nRESULTSStudiesfromUgandaBeninGhanaandMalawishowthatmalariaduringpregnancyadverselyimpactscognitivemotorandbehavioraldevelopment.Cognitivedeficitswereobservedat12and24monthswithsomestudiesindicatinglong-termeffectsat36months.Motordevelopmentandlanguageoutcomeswerevariablewithlanguageimpairmentslinkedtomalariaacquiredlateinpregnancy.nCONCLUSIONSThereviewidentifiesgapsinresearchsuchastheroleofasymptomaticinfectionsexposuretimingandmalaria039sinteractionwithmaternalcomorbiditieslikeHIV.Potentialmechanismsforneurodevelopmentaldeficitsincludeplacentaldysfunctionandinflammationimpactingfetalbraindevelopment.Howevermethodologicallimitationssuchasvaryingassessmenttoolsandsamplesizespreventconclusiveevidence.Thereviewcallsformorelongitudinalstudiestounderstandthelong-termeffectsofprenatalmalariabetterandguideinterventionstoimprovechilddevelopmentinmalaria-endemicregions.nIMPACTPrenatalmalariaexposureislinkedtocognitivedeficitswithpotentiallong-termeffectsonmotorandlanguagedevelopment.Latepregnancymalariamayhaveastrongerimpactonlanguagedevelopmenthighlightingtheimportanceofexposuretiming.Mechanismssuchasplacentaldysfunctionandinflammationmaydisruptfetalbraindevelopmentandcontributetoneurodevelopmentaldeficits.Futurestudiesshouldprioritizelongitudinalresearchusingadvancedmethodologiestobetterunderstandthelong-termeffectsofprenatalmalariaexposureonneurodevelopment.date2025-10sectionpartNumberpartTitleDOI10.1038s41390-025-03967-5citationKeyurlPMID40033081PMCIDISSN1530-0447languageengcollectionsHRX9XVKIdateModified2026-07-17T054407ZkeyQMQGB5SUlibraryid19955111metacreatorSummaryGressensparsedDate2000numChildren2bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtGressensP.1.ThedevelopingnervoussystemAseriesofreviewarticles.Mechanismsanddisturbancesofneuronalmigration.PediatricresearchInternet.2000cited2014June30486725x201330.Availablefromltaclass039zp-ItemURL039href039httpwww.nature.comprjournalv48n6abspr2000265a.html039gthttpwww.nature.comprjournalv48n6abspr2000265a.htmlltagtltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitle1.ThedevelopingnervoussystemAseriesofreviewarticles.MechanismsanddisturbancesofneuronalmigrationcreatorscreatorTypeauthorfirstNamePierrelastNameGressensabstractNotedate2000sectionpartNumberpartTitleDOIcitationKeyurlhttpwww.nature.comprjournalv48n6abspr2000265a.htmlPMIDPMCIDISSNlanguagecollections76DC896DdateModified2026-07-16T081324ZkeyNA9SQLRVlibraryid19955111metacreatorSummaryLangleyetal.parsedDate2015numChildren2bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtLangleyKGTrauSBeanLJHNarravulaASchrierVerganoSA.A7-month-oldmalewithAllan-Herndon-DudleysyndromeandthepowerofT3.AmericanJournalofMedicalGeneticsPartAInternet.2015cited2017Nov316751117x201320.Availablefromltaclass039zp-ItemURL039href039httpdoi.wiley.com10.1002ajmg.a.36970039gthttpdoi.wiley.com10.1002ajmg.a.36970ltagtltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitleA7-month-oldmalewithAllan-Herndon-DudleysyndromeandthepowerofT3creatorscreatorTypeauthorfirstNameKatherineG.lastNameLangleycreatorTypeauthorfirstNameStevenlastNameTraucreatorTypeauthorfirstNameLoraJ.H.lastNameBeancreatorTypeauthorfirstNameAlekhyalastNameNarravulacreatorTypeauthorfirstNameSamanthaA.lastNameSchrierVerganoabstractNoteAllan-Herndon-DudleysyndromeAHDSMIM300523isanX-linkedneurodegenerativedisordercharacterizedbyintellectualdisabilityseverehypotoniadiminishedmusclemassandprogressivespasticparaplegia.AllaffectedmaleshavepathognomonicthyroidprofileswithanelevatedT3low-normalfreeT4andnormalTSH.Mutationsinthemonocarboxylatetransporter8MCT8geneSLC16A2havebeenfoundtobecausative.HerewedescribeaprobandwhoseextensiveevaluationandultimatediagnosisofAHDSunmaskedthreepreviouslyundiagnosedgenerationsofaffectedindividualsinonefamily.Thiscaseillustratestheneedforclinicianstoconsiderobtainingfullthyroidstudiesonindividualswiththenon-specificfindingsofseverehypotoniafailuretothriveandgrossmotordelay.date052015sectionpartNumberpartTitleDOI10.1002ajmg.a.36970citationKeyurlhttpdoi.wiley.com10.1002ajmg.a.36970PMIDPMCIDISSN15524825languageencollectionsFGD6VY74dateModified2026-07-15T234204ZkeySZKDQM42libraryid19955111metacreatorSummaryThevathasanandGregoryparsedDate2010numChildren1bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtThevathasanWGregoryR.Deepbrainstimulationformovementdisorders.Practicalneurology.201010116x201326.ltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitleDeepbrainstimulationformovementdisorderscreatorscreatorTypeauthorfirstNameW.lastNameThevathasancreatorTypeauthorfirstNameR.lastNameGregoryabstractNoteDeepbrainstimulationisnowconsideredaroutinetreatmentoptionforselectedpatientswithadvancedParkinson039sdiseaseprimarysegmentalandgeneraliseddystoniaandessentialtremor.Theneurosurgeonisresponsiblefortheaccurateandsafeplacementoftheelectrodesandtheneurologistforthecarefulselectionofpatientsandtitrationofmedicationagainsttheeffectsofstimulation.Amultidisciplinaryteamapproachinvolvingspecialistnursesneuropsychologistsandneurophysiologistsisrequiredforasuccessfuloutcome.Inthisarticlewewillsummarisethekeypointsinpatientselectionprovideanoverviewofthesurgicaltechniqueanddiscussthebeneficialandadverseoutcomesthatcanoccur.date2010sectionpartNumberpartTitleDOI10.1136jnnp.2009.200998citationKeyurlPMIDPMCIDISSNlanguagecollectionsVMPRS9XHdateModified2026-07-15T233826ZkeySRMRT34Ilibraryid19955111metacreatorSummaryTristanoparsedDate2010numChildren1bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtTristanoAG.Neurologicaladverseeventsassociatedwithanti-tumornecrosisfactoralphatreatment.JNeurolInternet.2010cited2011June2925791421x201331.Availablefromltaclass039zp-ItemURL039href039httpwww.springerlink.comcontent32042367g7x3l352039gthttpwww.springerlink.comcontent32042367g7x3l352ltagtltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitleNeurologicaladverseeventsassociatedwithanti-tumornecrosisfactoralphatreatmentcreatorscreatorTypeauthorfirstNameAntonioG.lastNameTristanoabstractNoteAnti-tumornecrosisfactoralphaTNF-alphadrugshavebeensuccessfullyusedforthetreatmentofrheumaticautoimmunediseasesincludingrheumatoidarthritisRApsoriaticarthritispsoriasisankylosingspondylitisASjuvenilechronicarthritisandCrohn039sdisease.HowevertheyhavebeenassociatedwithdifferentneurologicaldisordersincludingalterationsofperipheralnervesmultiplesclerosisMSopticneuritisONandacutetransversemyelitisATM.Thisarticlereviewsthemostcurrentaspectregardingneurologicaladverseeventsassociatedwithanti-TNF-alphadrugswithemphasisonthepossibleexplanationsforthisrelationandthepathogenicmechanismofTNF-alphainneurologicaldisorders.date52010sectionpartNumberpartTitleDOI10.1007s00415-010-5591-7citationKeyurlhttpwww.springerlink.comcontent32042367g7x3l352PMIDPMCIDISSN0340-5354languagecollectionsA6JWEJETdateModified2026-07-15T233757ZkeySHA94JEAlibraryid19955111metacreatorSummarySheridanandMcLaughlinparsedDate2014-01-11numChildren1bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtSheridanMAMcLaughlinKA.Dimensionsofearlyexperienceandneuraldevelopmentdeprivationandthreat.TrendsinCognitiveSciencesInternet.2014Jan11cited2014Dec71811580x20135.Availablefromltaclass039zp-ItemURL039href039httpwww.cell.comarticleS1364661314002022abstract039gthttpwww.cell.comarticleS1364661314002022abstractltagtltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitleDimensionsofearlyexperienceandneuraldevelopmentdeprivationandthreatcreatorscreatorTypeauthorfirstNameMargaretA.lastNameSheridancreatorTypeauthorfirstNameKatieA.lastNameMcLaughlinabstractNoteOverthepastdecadeagrowingareaofresearchhasfocusedonadversechildhoodexperiencesACEsandtheirimpactsonneuralanddevelopmentaloutcomes.Workinthefieldto-datehasgenerallyconceptualizedACEsintermsofexposuretostresswhileoverlookingtheunderlyingdimensionsofenvironmentalexperiencethatmaydistinctlyimpactneuraldevelopment.Hereweproposeanovelframeworkthatdifferentiatesbetweendeprivationabsenceofexpectedcognitiveandsocialinputandthreatpresenceofathreattoone039sphysicalintegrity.Wedrawsupportfortheneuralbasisofthisdistinctionfromstudiesonfearlearningandsensorydeprivationinanimalstohighlightpotentialmechanismsthroughwhichexperiencesofthreatanddeprivationcouldaffectneuralstructureandfunctioninhumans.date01112014sectionpartNumberpartTitleDOI10.1016j.tics.2014.09.001citationKeyurlhttpwww.cell.comarticleS1364661314002022abstractPMIDPMCIDISSN1364-6613languageEnglishcollectionsdateModified2026-07-15T233746ZkeySGV3T9R4libraryid19955111metacreatorSummaryLangeetal.parsedDate2014numChildren1bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtLangeKWHauserJLangeKMMakulska-GertrudaETakanoTTakeuchiYetal.Utilityofcognitiveneuropsychologicalassessmentinattention-deficithyperactivitydisorder.ADHDAttentionDeficitandHyperactivityDisordersInternet.2014cited2017Mar1964241x20138.Availablefromltaclass039zp-ItemURL039href039httplink.springer.com10.1007s12402-014-0132-3039gthttplink.springer.com10.1007s12402-014-0132-3ltagtltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitleUtilityofcognitiveneuropsychologicalassessmentinattention-deficithyperactivitydisordercreatorscreatorTypeauthorfirstNameKlausW.lastNameLangecreatorTypeauthorfirstNameJoachimlastNameHausercreatorTypeauthorfirstNameKatharinaM.lastNameLangecreatorTypeauthorfirstNameEwelinalastNameMakulska-GertrudacreatorTypeauthorfirstNameTomoyukilastNameTakanocreatorTypeauthorfirstNameYoshihirolastNameTakeuchicreatorTypeauthorfirstNameLaralastNameTuchacreatorTypeauthorfirstNameOliverlastNameTuchaabstractNoteThepresentreviewaddressesthequestionofwhetherandhowneuropsychologicaltestsassessingcognitioninattention-deficithyperactivitydisorderADHDcancontributetoclinicalandscientificissuesconcerningADHD.NeuropsychologicalstudieshaveshownvariousthoughinconsistentcognitivedeficitsinpatientswithADHD.WhilepatientswithADHDatgrouplevelmaydifferfromhealthyparticipantsinregardtocognitivefunctioningthereisnodistinctpsychometriccognitivetestorprofileallowinganindividualdiagnosisofADHDortheidentificationofsubtypesaccordingtoDSM.Psychometricneuropsychologicaltestsmayprovideaprecisedescriptionofthecognitiveproblemsinindividualpatientsandofferspecificinformationforindividualizedtreatmentplanning.InadditionneuropsychologicalassessmentmaycontributetoneuroscientificresearchbyprovidingendophenotypesorbiologicalmarkersofADHD.Cognitiveneuropsychologicalassessmentappearstobeatpresentoflimitedclinicaluseandconfinedtoindividualdescriptions.date122014sectionpartNumberpartTitleDOI10.1007s12402-014-0132-3citationKeyurlhttplink.springer.com10.1007s12402-014-0132-3PMIDPMCIDISSN1866-61161866-6647languageencollections4TNF88LRdateModified2026-07-15T233735ZkeySDD2AH63libraryid19955111metacreatorSummaryCrowandManelparsedDate2015-06-05numChildren1bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtCrowYJManelN.Aicardix2013GoutixE8ressyndromeandthetypeIinterferonopathies.NatureReviewsImmunologyInternet.2015June5cited2016Sept5157429x201340.Availablefromltaclass039zp-ItemURL039href039httpwww.nature.comdoifinder10.1038nri3850039gthttpwww.nature.comdoifinder10.1038nri3850ltagtltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitleAicardiu2013Goutiu00e8ressyndromeandthetypeIinterferonopathiescreatorscreatorTypeauthorfirstNameYanickJ.lastNameCrowcreatorTypeauthorfirstNameNicolaslastNameManelabstractNoteDissectionofthegeneticbasisofAicardi-Goutiu00e8ressyndromehashighlightedafundamentallinkbetweennucleicacidmetabolisminnateimmunesensorsandtypeIinterferoninduction.ThishadledtotheconceptofthehumaninterferonopathiesasabroadersetofMendeliandisordersinwhichaconstitutiveupregulationoftypeIinterferonactivitydirectlyrelatestodiseasepathology.Herewediscussthemolecularandcellularbasisoftheinterferonopathiestheircategorizationfuturetreatmentstrategiesandtheinsightstheyprovideintonormalphysiology.date2015-6-5sectionpartNumberpartTitleDOI10.1038nri3850citationKeyurlhttpwww.nature.comdoifinder10.1038nri3850PMIDPMCIDISSN1474-17331474-1741languagecollectionsVZ827AVKdateModified2026-07-15T233721ZkeyS2NNYWVWlibraryid19955111metacreatorSummaryLiuetal.parsedDate2011-09-16numChildren1bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtLiuPErezANagamaniSCSDharSUKox142odziejskaKEDharmadhikariAVetal.ChromosomeCatastrophesInvolveReplicationMechanismsGeneratingComplexGenomicRearrangements.CellInternet.2011Sept16cited2023Mar121466889x2013903.Availablefromltaclass039zp-ItemURL039href039httpswww.cell.comcellabstractS0092-86741100885-3039gthttpswww.cell.comcellabstractS0092-86741100885-3ltagtltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitleChromosomeCatastrophesInvolveReplicationMechanismsGeneratingComplexGenomicRearrangementscreatorscreatorTypeauthorfirstNamePengfeilastNameLiucreatorTypeauthorfirstNameAyeletlastNameErezcreatorTypeauthorfirstNameSandeshC.SreenathlastNameNagamanicreatorTypeauthorfirstNameShwetaU.lastNameDharcreatorTypeauthorfirstNameKatarzynaE.lastNameKou0142odziejskacreatorTypeauthorfirstNameAvinashV.lastNameDharmadhikaricreatorTypeauthorfirstNameM.LancelastNameCoopercreatorTypeauthorfirstNameJoannalastNameWiszniewskacreatorTypeauthorfirstNameFenglastNameZhangcreatorTypeauthorfirstNameMarjorieA.lastNameWitherscreatorTypeauthorfirstNameCarlosA.lastNameBacinocreatorTypeauthorfirstNameLuisDaniellastNameCampos-AcevedocreatorTypeauthorfirstNameMauricioR.lastNameDelgadocreatorTypeauthorfirstNameDebralastNameFreedenbergcreatorTypeauthorfirstNameAdolfolastNameGarnicacreatorTypeauthorfirstNameTheresaA.lastNameGrebecreatorTypeauthorfirstNameDoloreslastNameHernu00e1ndez-AlmaguercreatorTypeauthorfirstNameLaDonnalastNameImmkencreatorTypeauthorfirstNameSeemaR.lastNameLalanicreatorTypeauthorfirstNameScottD.lastNameMcLeancreatorTypeauthorfirstNameHopelastNameNorthrupcreatorTypeauthorfirstNameFernandolastNameScagliacreatorTypeauthorfirstNameLanelastNameStrathearncreatorTypeauthorfirstNamePamelalastNameTrapanecreatorTypeauthorfirstNameSung-HaeL.lastNameKangcreatorTypeauthorfirstNameAnkitalastNamePatelcreatorTypeauthorfirstNameSauWailastNameCheungcreatorTypeauthorfirstNameP.J.lastNameHastingscreatorTypeauthorfirstNamePaweu0142lastNameStankiewiczcreatorTypeauthorfirstNameJamesR.lastNameLupskicreatorTypeauthorfirstNameWeiminlastNameBiabstractNoteSUMMARYComplexgenomicrearrangementsCGRconsistingoftwoormorebreakpointjunctionshavebeenobservedingenomicdisorders.Recentlyachromosomecatastrophephenomenontermedchromothripsisinwhichnumerousgenomicrearrangementsareapparentlyacquiredinonesinglecatastrophiceventwasdescribedinmultiplecancers.HereweshowthatconstitutionallyacquiredCGRssharesimilaritieswithcancerchromothripsis.Inthe17CGRcasesinvestigatedweobservedlocalizationandmultiplecopynumberchangesincludingdeletionsduplicationsandortriplicationsaswellasextensivetranslocationsandinversions.Genomicrearrangementsinvolvedvariedinsizeandcomplexitiesinonecasearraycomparativegenomichybridizationrevealed18copynumberchanges.Breakpointsequencingidentifiedcharacteristicfeaturesincludingsmalltemplatedinsertionsatbreakpointsandmicrohomologyatbreakpointjunctionswhichhavebeenattributedtoreplicativeprocesses.TheresemblancebetweenCGRandchromothripsissuggestssimilarmechanisticunderpinnings.SuchchromosomecatastrophiceventsappeartoreflectbasicDNAmetabolismoperativethroughoutanorganismu2019slifecycle.date2011-09-16sectionpartNumberpartTitleDOI10.1016j.cell.2011.07.042citationKeyurlhttpswww.cell.comcellabstractS0092-86741100885-3PMID21925314PMCIDISSN0092-86741097-4172languageEnglishcollections3R7HGPJKdateModified2026-07-15T233632ZkeyS37ETKI4libraryid19955111metacreatorSummaryHamdanetal.parsedDate2017-11-02numChildren1bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtHamdanFFMyersCTCossettePLemayPSpiegelmanDLaporteADetal.HighRateofRecurrentDeNovoMutationsinDevelopmentalandEpilepticEncephalopathies.TheAmericanJournalofHumanGeneticsInternet.2017Nov2cited2020Jan111015664x201385.Availablefromltaclass039zp-ItemURL039href039httpswww.cell.comajhgabstractS0002-92971730377-4039gthttpswww.cell.comajhgabstractS0002-92971730377-4ltagtltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitleHighRateofRecurrentDeNovoMutationsinDevelopmentalandEpilepticEncephalopathiescreatorscreatorTypeauthorfirstNameFadiF.lastNameHamdancreatorTypeauthorfirstNameCandaceT.lastNameMyerscreatorTypeauthorfirstNamePatricklastNameCossettecreatorTypeauthorfirstNamePhilippelastNameLemaycreatorTypeauthorfirstNameDanlastNameSpiegelmancreatorTypeauthorfirstNameAlexandreDionnelastNameLaportecreatorTypeauthorfirstNameChristinalastNameNassifcreatorTypeauthorfirstNameOusmanelastNameDiallocreatorTypeauthorfirstNameJeanlastNameMonlongcreatorTypeauthorfirstNameMaximelastNameCadieux-DioncreatorTypeauthorfirstNameSylvialastNameDobrzenieckacreatorTypeauthorfirstNameCarolinelastNameMelochecreatorTypeauthorfirstNameKylelastNameRetterercreatorTypeauthorfirstNameMeganT.lastNameChocreatorTypeauthorfirstNameJillA.lastNameRosenfeldcreatorTypeauthorfirstNameWeiminlastNameBicreatorTypeauthorfirstNameChristinelastNameMassicottecreatorTypeauthorfirstNameMargueritelastNameMiguetcreatorTypeauthorfirstNameLedialastNameBrungacreatorTypeauthorfirstNameBrigidM.lastNameRegancreatorTypeauthorfirstNameKellylastNameMocreatorTypeauthorfirstNameCorylastNameTamcreatorTypeauthorfirstNameAmylastNameSchneidercreatorTypeauthorfirstNameGeorgielastNameHollingsworthcreatorTypeauthorfirstNameDavidR.lastNameFitzPatrickcreatorTypeauthorfirstNameAlanlastNameDonaldsoncreatorTypeauthorfirstNameNatalielastNameCanhamcreatorTypeauthorfirstNameEdwardlastNameBlaircreatorTypeauthorfirstNameBronwynlastNameKerrcreatorTypeauthorfirstNameAndrewE.lastNameFrycreatorTypeauthorfirstNameRhysH.lastNameThomascreatorTypeauthorfirstNameJosslastNameShelaghcreatorTypeauthorfirstNameJaneA.lastNameHurstcreatorTypeauthorfirstNameHelenlastNameBrittaincreatorTypeauthorfirstNameMoiralastNameBlythcreatorTypeauthorfirstNameRobertRogerlastNameLebelcreatorTypeauthorfirstNameEricaH.lastNameGerkescreatorTypeauthorfirstNameLauralastNameDavis-KeppencreatorTypeauthorfirstNameQuinnlastNameSteincreatorTypeauthorfirstNameWendyK.lastNameChungcreatorTypeauthorfirstNameSaraJ.lastNameDorisoncreatorTypeauthorfirstNamePaulJ.lastNameBenkecreatorTypeauthorfirstNameEmilylastNameFassicreatorTypeauthorfirstNameNicolelastNameCorsten-JanssencreatorTypeauthorfirstNameErik-JanlastNameKamsteegcreatorTypeauthorfirstNameFredericT.lastNameMau-ThemcreatorTypeauthorfirstNameAnge-LinelastNameBruelcreatorTypeauthorfirstNameAlainlastNameVerloescreatorTypeauthorfirstNameKatrinlastNameu00d5unapcreatorTypeauthorfirstNameMonicaH.lastNameWojcikcreatorTypeauthorfirstNameDaraV.F.lastNameAlbertcreatorTypeauthorfirstNameSunitalastNameVenkateswarancreatorTypeauthorfirstNameTysonlastNameWarecreatorTypeauthorfirstNameDeanlastNameJonescreatorTypeauthorfirstNameYu-ChilastNameLiucreatorTypeauthorfirstNameShekeebS.lastNameMohammadcreatorTypeauthorfirstNamePeymanlastNameBizargitycreatorTypeauthorfirstNameCarlosA.lastNameBacinocreatorTypeauthorfirstNameVincenzolastNameLeuzzicreatorTypeauthorfirstNameSimonelastNameMartinellicreatorTypeauthorfirstNameBrunolastNameDallapiccolacreatorTypeauthorfirstNameMarcolastNameTartagliacreatorTypeauthorfirstNameLubovlastNameBlumkincreatorTypeauthorfirstNameKlaasJ.lastNameWierengacreatorTypeauthorfirstNameGabrielalastNamePurcarincreatorTypeauthorfirstNameJamesJ.lastNameOu2019ByrnecreatorTypeauthorfirstNameSylvialastNameStocklercreatorTypeauthorfirstNameAnnalastNameLehmancreatorTypeauthorfirstNameBorislastNameKerencreatorTypeauthorfirstNameMarie-ChristinelastNameNouguescreatorTypeauthorfirstNameCyrillastNameMignotcreatorTypeauthorfirstNameStu00e9phanelastNameAuvincreatorTypeauthorfirstNameCarolinelastNameNavacreatorTypeauthorfirstNameSusanM.lastNameHiattcreatorTypeauthorfirstNameMartinalastNameBebincreatorTypeauthorfirstNameYunrulastNameShaocreatorTypeauthorfirstNameFernandolastNameScagliacreatorTypeauthorfirstNameSeemaR.lastNameLalanicreatorTypeauthorfirstNameRichardE.lastNameFryecreatorTypeauthorfirstNameImadT.lastNameJarjourcreatorTypeauthorfirstNameStu00e9phanielastNameJacquescreatorTypeauthorfirstNameRenee-MyriamlastNameBouchercreatorTypeauthorfirstNameEmilielastNameRioucreatorTypeauthorfirstNameMyriamlastNameSrourcreatorTypeauthorfirstNameLionellastNameCarmantcreatorTypeauthorfirstNameAnnelastNameLortiecreatorTypeauthorfirstNamePhilippelastNameMajorcreatorTypeauthorfirstNamePaolalastNameDiadoricreatorTypeauthorfirstNameFranu00e7oislastNameDubeaucreatorTypeauthorfirstNameGuylastNameDu2019AnjoucreatorTypeauthorfirstNameGuillaumelastNameBourquecreatorTypeauthorfirstNameSamuelF.lastNameBerkoviccreatorTypeauthorfirstNameLynetteG.lastNameSadleircreatorTypeauthorfirstNamePhilippeM.lastNameCampeaucreatorTypeauthorfirstNameZohalastNameKibarcreatorTypeauthorfirstNameRonaldG.lastNameLafreniu00e8recreatorTypeauthorfirstNameSimonL.lastNameGirardcreatorTypeauthorfirstNameSaadetlastNameMercimek-MahmutoglucreatorTypeauthorfirstNameCyruslastNameBoelmancreatorTypeauthorfirstNameGuyA.lastNameRouleaucreatorTypeauthorfirstNameIngridE.lastNameScheffercreatorTypeauthorfirstNameHeatherC.lastNameMeffordcreatorTypeauthorfirstNameDanielleM.lastNameAndradecreatorTypeauthorfirstNameElsalastNameRossignolcreatorTypeauthorfirstNameBergeA.lastNameMinassiancreatorTypeauthorfirstNameJacquesL.lastNameMichaudabstractNoteDevelopmentalandepilepticencephalopathyDEEisagroupofconditionscharacterizedbytheco-occurrenceofepilepsyandintellectualdisabilityIDtypicallywithdevelopmentalplateauingorregressionassociatedwithfrequentepileptiformactivity.ThecauseofDEEremainsunknowninthemajorityofcases.Weperformedwhole-genomesequencingWGSin197individualswithunexplainedDEEandpharmaco-resistantseizuresandintheirunaffectedparents.WefocusedourattentionondenovomutationsDNMsandidentifiedcandidategenescontainingsuchvariants.WesoughttoidentifyadditionalsubjectswithDNMsinthesegenesbyperformingtargetedsequencinginanotherseriesofindividualswithDEEandbyminingvarioussequencingdatasets.Wealsoperformedmeta-analysestodocumentenrichmentofDNMsincandidategenesbyleveragingourWGSdatasetwiththoseofseveralDEEandIDseries.BycombiningthesestrategieswewereabletoprovideacausallinkbetweenDEEandthefollowinggenesNTRK2GABRB2CLTCDHDDSNUS1RAB11AGABBR2andSNAP25.Overallweestablishedamoleculardiagnosisin6319732individualsinourWGSseries.ThemaincauseofDEEintheseindividualswasdenovopointmutations5363solvedcasesfollowedbyinheritedmutations663solvedcasesanddenovoCNVs463solvedcases.DenovomissensevariantsexplainedalargerproportionofindividualsinourseriesthaninotherseriesthatwereprimarilyascertainedbecauseofID.MoreovertheseDNMsweremorefrequentlyrecurrentthanthoseidentifiedinIDseries.TheseobservationsindicatethatthegeneticlandscapeofDEEmightbedifferentfromthatofIDwithoutepilepsy.date2017-11-02sectionpartNumberpartTitleDOI10.1016j.ajhg.2017.09.008citationKeyurlhttpswww.cell.comajhgabstractS0002-92971730377-4PMID29100083PMCIDISSN0002-92971537-6605languageEnglishcollectionsFXKK8Z46dateModified2026-07-15T233631ZkeyRV5CXZZAlibraryid19955111metacreatorSummaryEllisandTurk-BrowneparsedDate2018numChildren1bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtEllisCTTurk-BrowneNB.InfantfMRIAModelSystemforCognitiveNeuroscience.TrendsinCognitiveSciencesInternet.2018cited2018July9225375x201387.Availablefromltaclass039zp-ItemURL039href039httplinkinghub.elsevier.comretrievepiiS1364661318300184039gthttplinkinghub.elsevier.comretrievepiiS1364661318300184ltagtltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitleInfantfMRIAModelSystemforCognitiveNeurosciencecreatorscreatorTypeauthorfirstNameCameronT.lastNameElliscreatorTypeauthorfirstNameNicholasB.lastNameTurk-BrowneabstractNoteOurunderstandingofthetypicalhumanbrainhasbenefittedgreatlyfromstudyingdifferentkindsofbrainsandtheirassociatedbehavioralrepertoiresincludinganimalmodelsandneuropsychologicalpatients.Thissamecomparativeperspectivecanbeappliedtoearlydevelopmentu2014theenvironmentbehaviorandbrainsofinfantsprovideamodelsystemforunderstandinghowthematurebrainworks.Thisapproachrequiresnon-invasivemethodsformeasuringbrainfunctioninawakebehavinginfants.fMRIisbecomingincreasinglyviableforthispurposewiththeuniqueabilitytopreciselymeasuretheentirebrainincludingbothcorticalandsubcorticalstructures.HerewediscusspotentiallessonsfrominfantfMRIforseveraldomainsofadultcognitionandconsiderthechallengesofconductingsuchresearchandhowtheymightbemitigated.date052018sectionpartNumberpartTitleDOI10.1016j.tics.2018.01.005citationKeyurlhttplinkinghub.elsevier.comretrievepiiS1364661318300184PMIDPMCIDISSN13646613languageencollectionsRK9QSW64dateModified2026-07-15T233617ZkeyRPE4AEJHlibraryid19955111metacreatorSummaryJacksonetal.parsedDate2012numChildren1bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtJacksonJREatonWWCascellaNGFasanoAKellyDL.NeurologicandPsychiatricManifestationsofCeliacDiseaseandGlutenSensitivity.PsychiatricQuarterlyInternet.2012cited2014Aug2983191x2013102.Availablefromltaclass039zp-ItemURL039href039httplink.springer.com10.1007s11126-011-9186-y039gthttplink.springer.com10.1007s11126-011-9186-yltagtltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitleNeurologicandPsychiatricManifestationsofCeliacDiseaseandGlutenSensitivitycreatorscreatorTypeauthorfirstNameJessicaR.lastNameJacksoncreatorTypeauthorfirstNameWilliamW.lastNameEatoncreatorTypeauthorfirstNameNicolaG.lastNameCascellacreatorTypeauthorfirstNameAlessiolastNameFasanocreatorTypeauthorfirstNameDeannaL.lastNameKellyabstractNoteCeliacDiseaseCDisanimmune-mediateddiseasedependentonglutenaproteinpresentinwheatryeorbarleythatoccursinabout1ofthepopulationandisgenerallycharacterizedbygastrointestinalcomplaints.MorerecentlytheunderstandingandknowledgeofglutensensitivityGShasemergedasanillnessdistinctfromceliacdiseasewithanestimatedprevalence6timesthatofCD.Glutensensitivepeopledonothavevillousatrophyorantibodiesthatarepresentinceliacdiseasebutrathertheycantestpositiveforantibodiestogliadin.BothCDandGSmaypresentwithavarietyofneurologicandpsychiatricco-morbiditieshoweverextraintestinalsymptomsmaybetheprimepresentationinthosewithGS.Howeverglutensensitivityremainsundertreatedandunderrecognizedasacontributingfactortopsychiatricandneurologicmanifestiations.Thisreviewfocusesonneurologicandpsychiatricmanifestationsimplicatedwithglutensensitivityreviewstheemergenceofglutensensitivitydistinctfromceliacdiseaseandsummarizesthepotentialmechanismsrelatedtothisimmunereaction.date32012sectionpartNumberpartTitleDOI10.1007s11126-011-9186-ycitationKeyurlhttplink.springer.com10.1007s11126-011-9186-yPMIDPMCIDISSN0033-27201573-6709languageencollectionsE8PT3DWUdateModified2026-07-15T233550ZkeyRGXIHUT8libraryid19955111metacreatorSummaryRimkusetal.parsedDate2014numChildren1bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtRimkusCdeMAndradeCSLeiteCdaCMcKinneyAMLucatoLT.ToxicLeukoencephalopathiesIncludingDrugMedicationEnvironmentalandRadiation-InducedEncephalopathicSyndromes.SeminarsinUltrasoundCTandMRIInternet.2014cited2018Jan1335297x2013117.Availablefromltaclass039zp-ItemURL039href039httplinkinghub.elsevier.comretrievepiiS0887217113000863039gthttplinkinghub.elsevier.comretrievepiiS0887217113000863ltagtltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitleToxicLeukoencephalopathiesIncludingDrugMedicationEnvironmentalandRadiation-InducedEncephalopathicSyndromescreatorscreatorTypeauthorfirstNameCarolinadeMedeiroslastNameRimkuscreatorTypeauthorfirstNameCeliSantoslastNameAndradecreatorTypeauthorfirstNameClaudiadaCostalastNameLeitecreatorTypeauthorfirstNameAlexanderM.lastNameMcKinneycreatorTypeauthorfirstNameLeandroTavareslastNameLucatoabstractNoteToxicleukoencephalopathiescanbesecondarytotheexposuretoawidevarietyofexogenousagentsincludingcranialirradiationchemotherapyantiepilepticagentsdrugsofabuseandenvironmentaltoxins.Thereisnotypicalclinicalpictureandpatientscanpresentwithawidearrayofsignsandsymptoms.Involvementofwhitematterisakeyfindinginthisscenarioalthoughinsomecircumstancesotherhighmetabolicareasofthecentralnervoussystemcanalsobeaffected.MagneticresonanceMRimagingusuallydisclosesbilateralandsymmetricwhitematterareasofhyperintensesignalonT2-weightedandfluid-attenuatedinversionrecoveryimagesandsignsofrestricteddiffusionareassociatedintheacutestage.Inmostcasesthechangesarereversibleespeciallywithpromptrecognitionofthediseaseanddiscontinuationofthenoxiousagent.EithertheMRorclinicalfeaturesmaybesimilartoseveralnontoxicentitiessuchasdemyelinatingdiseasesleukodystrophieshepaticencephalopathyvasculardiseasehypoxic-ischemicstatesandothers.Ahighindexofsuspicionshouldbemaintainedwheneverapatientpresentsrecentonsetofneurologicdeficitsearchingtheriskofexposuretoaneurotoxicagent.GettingtoknowthemostfrequentMRappearancesandmechanismsofactionofcausativeagentsmayhelptomakeanearlydiagnosisandbegintherapyimprovingoutcome.Inthisreviewsomeofthemostimportantcausesofleukoencephalopathiesarepresentedaswellasother2relatedconditionsstrokelikemigraineattacksafterradiationtherapysyndromeandreversiblespleniallesions.date042014sectionpartNumberpartTitleDOI10.1053j.sult.2013.09.005citationKeyurlhttplinkinghub.elsevier.comretrievepiiS0887217113000863PMIDPMCIDISSN08872171languageencollectionsC98WWB9BdateModified2026-07-15T233524ZkeyREBCDXX8libraryid19955111metacreatorSummaryAldazetal.parsedDate2011numChildren1bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtAldazAFerriolsRAumenteDCalvoMVFarreMRGarcxEDaBetal.MonitorizacixF3nfarmacocinxE9ticadeantiepilxE9pticos.FarmaciaHospitalariaInternet.2011cited2015Aug8356326x201339.Availablefromltaclass039zp-ItemURL039href039httplinkinghub.elsevier.comretrievepiiS1130634311000560039gthttplinkinghub.elsevier.comretrievepiiS1130634311000560ltagtltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitleMonitorizaciu00f3nfarmacocinu00e9ticadeantiepilu00e9pticoscreatorscreatorTypeauthorfirstNameA.lastNameAldazcreatorTypeauthorfirstNameR.lastNameFerriolscreatorTypeauthorfirstNameD.lastNameAumentecreatorTypeauthorfirstNameM.V.lastNameCalvocreatorTypeauthorfirstNameM.R.lastNameFarrecreatorTypeauthorfirstNameB.lastNameGarcu00edacreatorTypeauthorfirstNameR.lastNameMarquu00e9screatorTypeauthorfirstNameP.lastNameMascreatorTypeauthorfirstNameB.lastNamePortacreatorTypeauthorfirstNameM.lastNameOutedacreatorTypeauthorfirstNameD.lastNameSoyabstractNoteMonitoringplasmalevelsofantiepilepticdrugsforthetreatmentandprophylaxisofepilepsyisoneofthestrategiesenablingclinicalresultstoimprovebyreducingadverseaffectsandincreasingeffectiveness.TheobjectiveofthisarticleistoreviewthebasicaspectsinthemonitoringofantiepilepticdrugsusingaconsensusdocumentpreparedandendorsedbythepharmacokineticsandpharmacogeneticsworkinggroupPK.genoftheSociedadEspau00f1oladeFarmaciaHospitalariaSpanishSocietyofHospitalPharmacists.date112011sectionpartNumberpartTitleDOI10.1016j.farma.2010.10.005citationKeyurlhttplinkinghub.elsevier.comretrievepiiS1130634311000560PMIDPMCIDISSN11306343languageescollectionsRCAXR6GNdateModified2026-07-15T233512ZkeyR87VQ235libraryid19955111metaparsedDate2015-04-13numChildren2bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtEpilepsyandNeurodevelopmentalDisordersInternet.ClinicalGate.2015.Availablefromltaclass039zp-ItemURL039href039httpsclinicalgate.comepilepsy-and-neurodevelopmental-disorders039gthttpsclinicalgate.comepilepsy-and-neurodevelopmental-disordersltagtltdivgtnltdivgtnltdivgtdataitemTypeblogPosttitleEpilepsyandNeurodevelopmentalDisorderscreatorsabstractNoteVisitthepostformore.blogTitleClinicalGatedate2015-04-13T0325470000DOI10.1016b978-1-4377-0435-8.00055-xcitationKeyurlhttpsclinicalgate.comepilepsy-and-neurodevelopmental-disordersISSNlanguagecollectionsYR9L4RAWdateModified2026-07-15T233447ZkeyR8I25GDVlibraryid19955111metacreatorSummaryMetzkerparsedDate2010numChildren1bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtMetzkerML.Sequencingtechnologiesx2014thenextgeneration.NatureReviewsGeneticsInternet.2010cited2016Sept3011131x201346.Availablefromltaclass039zp-ItemURL039href039httpwww.nature.comdoifinder10.1038nrg2626039gthttpwww.nature.comdoifinder10.1038nrg2626ltagtltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitleSequencingtechnologiesu2014thenextgenerationcreatorscreatorTypeauthorfirstNameMichaelL.lastNameMetzkerabstractNoteDemandhasneverbeengreaterforrevolutionarytechnologiesthatdeliverfastinexpensiveandaccurategenomeinformation.Thischallengehascatalysedthedevelopmentofnext-generationsequencingNGStechnologies.Theinexpensiveproductionoflargevolumesofsequencedataistheprimaryadvantageoverconventionalmethods.HereIpresentatechnicalreviewoftemplatepreparationsequencingandimaginggenomealignmentandassemblyapproachesandrecentadvancesincurrentandnear-termcommerciallyavailableNGSinstruments.IalsooutlinethebroadrangeofapplicationsforNGStechnologiesinadditiontoprovidingguidelinesforplatformselectiontoaddressbiologicalquestionsofinterest.date12010sectionpartNumberpartTitleDOI10.1038nrg2626citationKeyurlhttpwww.nature.comdoifinder10.1038nrg2626PMIDPMCIDISSN1471-00561471-0064languagecollections84TR57I6dateModified2026-07-15T233445ZkeyR7787GPLlibraryid19955111metacreatorSummaryKerckhoveetal.parsedDate2015numChildren1bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtKerckhoveKVDielsMVanhaesebrouckSLuytenKPyckNDeMeyerAetal.Consensusontheguidelinesforthedietarymanagementofclassicalgalactosemia.ClinicalNutritionESPENInternet.2015cited2016July24101e1x20134.Availablefromltaclass039zp-ItemURL039href039httplinkinghub.elsevier.comretrievepiiS2212826314000487039gthttplinkinghub.elsevier.comretrievepiiS2212826314000487ltagtltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitleConsensusontheguidelinesforthedietarymanagementofclassicalgalactosemiacreatorscreatorTypeauthorfirstNameKristelVandelastNameKerckhovecreatorTypeauthorfirstNameMariannelastNameDielscreatorTypeauthorfirstNameSigridlastNameVanhaesebrouckcreatorTypeauthorfirstNameKarinlastNameLuytencreatorTypeauthorfirstNameNancylastNamePyckcreatorTypeauthorfirstNameAnlastNameDeMeyercreatorTypeauthorfirstNameMarleenlastNameVanDriesschecreatorTypeauthorfirstNameMartinelastNameRobertcreatorTypeauthorfirstNameKarenlastNameCorthoutscreatorTypeauthorfirstNameArianelastNameCariscreatorTypeauthorfirstNameEmilielastNameDuchateaucreatorTypeauthorfirstNameMartinelastNameDassycreatorTypeauthorfirstNameGenevievelastNameBihetabstractNoteWorldwidethereisscientificdiscussionaboutthedietarymanagementofgalactosemia.ThedietarymanagementisverydifferentinseveralcountriesamongEuropetheUSandCanada.Themainpointsofdiscussionarerelatedtothefactthatidespiteastrictdietsomepatientsstillhavepooroutcomesiithereislackofscientificknowledgeabouttheroleofendogenousproductionofgalactoseondiseaseevolutionwithorwithoutdiet.TheaimofthecurrentworkwasthecreationofaBelgianconsensusondietaryguidelinesforthemanagementofgalactosemia.date022015sectionpartNumberpartTitleDOI10.1016j.clnme.2014.10.001citationKeyurlhttplinkinghub.elsevier.comretrievepiiS2212826314000487PMIDPMCIDISSN24054577languageencollectionsLRUWJM2AdateModified2026-07-15T233433ZkeyR3JVJUASlibraryid19955111metacreatorSummaryBressmanparsedDate2007numChildren1bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtBressmanSB.Geneticsofdystoniaanoverview.ParkinsonismamprelateddisordersInternet.2007cited2016Mar1013S347x201355.Availablefromltaclass039zp-ItemURL039href039httpwww.sciencedirect.comsciencearticlepiiS1353802008700294039gthttpwww.sciencedirect.comsciencearticlepiiS1353802008700294ltagtltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitleGeneticsofdystoniaanoverviewcreatorscreatorTypeauthorfirstNameSusanB.lastNameBressmanabstractNoteThetorsiondystoniasencompassabroadcollectionofetiologicsubtypesoftendividedintoprimaryandsecondaryclasses.Overthelasttwodecadesanincreasingnumberofgeneticcauseshavebeenidentifiedincludinganimportantgeneticcauseforearly-onsetprimarytorsiondystoniaPTDaGAGdeletioninexon5ofDYT1agenethatencodestorsinA.AlthoughtheexactfunctionoftorsinAremainselusiveevidencesuggestsaberrantlocalizationandinteractionofmutatedproteinthismayresultinanabnormalresponsetostressorinterferencewithcytoskeletaleventsandthedevelopmentofneuronalbrainpathways.IdentificationofDYT1hasalsopermittedstudiesofbothquotmanifestingquotandquotnon-manifestingquotDYT1mutationcarriers.Theseinvestigationshaveexpandedourunderstandingofclinicalexpressiontoincludepsychiatricsymptomsandalsohaveenabledimagingstudiesofendophenotypes.Similarlytherehasbeenprogressinourunderstandingofthegeneticunderpinningsofthequotdystonia-plusquotsyndromesdopa-responsivedystoniaDRDmyoclonus-dystoniaM-Dandrapid-onsetdystonia-parkinsonismRDP.Theseadvancesprovideawidenedplatformforfutureresearch.date2007sectionpartNumberpartTitleDOI10.1016S1353-80200870029-4citationKeyurlhttpwww.sciencedirect.comsciencearticlepiiS1353802008700294PMIDPMCIDISSNlanguagecollections8FUWZNIPdateModified2026-07-15T233409ZkeyR2IDIUFDlibraryid19955111metacreatorSummaryRehmparsedDate2013-03-12numChildren1bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtRehmHL.Disease-targetedsequencingacornerstoneintheclinic.NatureReviewsGeneticsInternet.2013Mar12cited2016Sept6144295x2013300.Availablefromltaclass039zp-ItemURL039href039httpwww.nature.comdoifinder10.1038nrg3463039gthttpwww.nature.comdoifinder10.1038nrg3463ltagtltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitleDisease-targetedsequencingacornerstoneinthecliniccreatorscreatorTypeauthorfirstNameHeidiL.lastNameRehmabstractNoteWiththedecliningcostofsequencingandtheongoingdiscoveryofdiseasegenesitisnowpossibletoexaminehundredsofgenesinasingledisease-targetedtest.Althoughexome-andgenome-sequencingapproachesarebeginningtocompetedisease-targetedtestingretainscertainadvantagesandstillholdsafirmplaceinthediagnosticevaluation.HereIexaminethecurrentstateofclinicaldisease-targetedsequencingandevaluatethebenefitsandchallengesofincorporatingsequencingtestsintopatientcare.date2013-3-12sectionpartNumberpartTitleDOI10.1038nrg3463citationKeyurlhttpwww.nature.comdoifinder10.1038nrg3463PMIDPMCIDISSN1471-00561471-0064languagecollections84TR57I6dateModified2026-07-15T233408ZkeyQY4YVJ4Dlibraryid19955111metacreatorSummaryTarnopolskyparsedDate2012-02-01numChildren1bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtTarnopolskyM.ExerciseTestinginMetabolicMyopathies.PhysicalMedicineandRehabilitationClinicsofNorthAmericaInternet.2012Feb1cited2019Dec15231173x201386.Availablefromltaclass039zp-ItemURL039href039httpwww.sciencedirect.comsciencearticlepiiS1047965111001100039gthttpwww.sciencedirect.comsciencearticlepiiS1047965111001100ltagtltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitleExerciseTestinginMetabolicMyopathiescreatorscreatorTypeauthorfirstNameMarklastNameTarnopolskyabstractNoteMetabolicmyopathiesareagroupofgeneticdisordersspecificallyaffectingglucoseglycogenlipidandmitochondrialmetabolism.Themainmetabolicmyopathiesthatareevaluatedinthisarticlearethemitochondrialmyopathiesfattyacidoxidationdefectsandglycogenstoragedisease.Thisarticlefocusesontheusefulnessofexerciseintheevaluationofgeneticmetabolicmyopathies.dateFebruary12012sectionpartNumberpartTitleDOI10.1016j.pmr.2011.11.011citationKeyurlhttpwww.sciencedirect.comsciencearticlepiiS1047965111001100PMIDPMCIDISSN1047-9651languageencollections7PBNMVBPdateModified2026-07-15T233355ZkeyQWIP93DYlibraryid19955111metacreatorSummaryToledo-AlberolaandBetlloch-MasparsedDate2010numChildren4bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtToledo-AlberolaFBetlloch-MasI.Eritemasanularesenlainfancia.ActasDermo-SifiliogrxE1ficasInternet.2010cited2014Nov31016473x201384.Availablefromltaclass039zp-ItemURL039href039httpwww.actasdermo.orgeseritemas-anulares-infanciaarticulo13154280039gthttpwww.actasdermo.orgeseritemas-anulares-infanciaarticulo13154280ltagtltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitleEritemasanularesenlainfanciacreatorscreatorTypeauthorfirstNameF.lastNameToledo-AlberolacreatorTypeauthorfirstNameI.lastNameBetlloch-MasabstractNoteMeasuringtheabilityofSARS-CoV-2antibodiestoneutralizelivevirusesremainsaneffectiveapproachtoquantifythelevelofprotectionofindividuals.WeassessedtheneutralizationactivityagainsttheancestralSARS-CoV-2DeltaOmicronBA.1BA.2BA.2.12.1BA.4andBA.5strainsin280vaccinatedrestaurantbargroceryandhardwarestoreworkersinQuu00e9becCanada.date72010sectionpartNumberpartTitleDOI10.1016j.ad.2009.11.023citationKeyurlhttpwww.actasdermo.orgeseritemas-anulares-infanciaarticulo13154280PMIDPMCIDISSN00017310languageescollections33PLIMR2dateModified2026-07-15T233342ZkeyQV65ZRQQlibraryid19955111metacreatorSummarySchneiderandBhatiaparsedDate2010-08-07numChildren1bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtSchneiderSABhatiaKP.RareCausesofDystoniaParkinsonism.CurrentNeurologyandNeuroscienceReportsInternet.2010Aug7cited2012Mar26106431x20139.Availablefromltaclass039zp-ItemURL039href039httpwww.springerlink.comindex10.1007s11910-010-0136-0039gthttpwww.springerlink.comindex10.1007s11910-010-0136-0ltagtltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitleRareCausesofDystoniaParkinsonismcreatorscreatorTypeauthorfirstNameSusanneA.lastNameSchneidercreatorTypeauthorfirstNameKailashP.lastNameBhatiaabstractNoteThelistofgeneticcausesofsyndromesofdystoniaparkinsonismgrowsconstantly.Asaconsequencethediagnosisbecomesmoreandmorechallengingfortheclinician.Herewesummarizetheimportantcausesofdystoniaparkinsonismincludingautosomal-dominantrecessiveandx-linkedforms.Wecoverdopa-responsivedystoniaWilson039sdiseaseParkin-PINK1-andDJ-1-associatedparkinsonismPARK26and7x-linkeddystonia-parkinsonismLubagDYT3rapid-onsetdystonia-parkinsonismDYT12andDYT16dystoniathesyndromesofNeurodegenerationwithBrainIronAccumulationNBIAincludingpantothenatekinasePANK2-andPLA2G6PARK14-associatedneurodegenerationneuroferritinopathyKufor-RakebdiseasePARK9andtherecentlydescribedSENDAsyndromeFBXO7-associatedneurodegenerationPARK15autosomal-recessivespasticparaplegiawithathincorpuscallosumSPG11anddystoniaparkinsonismduetomutationsintheSLC6A3geneencodingthedopaminetransporter.Theyhaveincommonthatinallthesesyndromestheremaybeacombinationofdystonicandparkinsonianfeatureswhichmaybecomplicatedbypyramidaltractinvolvement.Theaimofthisreviewistofamiliarizetheclinicianwiththephenotypesofthesedisorders.date2010-8-7sectionpartNumberpartTitleDOI10.1007s11910-010-0136-0citationKeyurlhttpwww.springerlink.comindex10.1007s11910-010-0136-0PMIDPMCIDISSN1528-40421534-6293languagecollections3PVRP6KUdateModified2026-07-15T233329ZkeyQRBPJ5XAlibraryid19955111metanumChildren2bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtContinuumCasosclxEDnicos-PatologxEDaNeurolxF3gicaInternet.cited2026July13.Availablefromltaclass039zp-ItemURL039href039httpscontinuum.aeped.escoursesinfo1279039gthttpscontinuum.aeped.escoursesinfo1279ltagtltdivgtnltdivgtnltdivgtdataitemTypewebpagetitleContinuumCasosclu00ednicos-Patologu00edaNeurolu00f3gicacreatorsabstractNotedateDOIcitationKeyurlhttpscontinuum.aeped.escoursesinfo1279languagecollectionsXUJASUPRdateModified2026-07-15T233328ZkeyQQRQRG7Slibraryid19955111metacreatorSummaryKobayashiandPascual-LeoneparsedDate2003numChildren1bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtKobayashiMPascual-LeoneA.Transcranialmagneticstimulationinneurology.TheLancetNeurology.200323145x201356.ltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitleTranscranialmagneticstimulationinneurologycreatorscreatorTypeauthorfirstNameMasahitolastNameKobayashicreatorTypeauthorfirstNameAlvarolastNamePascual-LeoneabstractNoteTranscranialmagneticstimulationTMSisanon-invasivetoolfortheelectricalstimulationofneuraltissueincludingcerebralcortexspinalrootsandcranialandperipheralnerves.TMScanbeappliedassinglepulsesofstimulationpairsofstimuliseparatedbyvariableintervalstothesameordifferentbrainareasorastrainsofrepetitivestimuliatvariousfrequencies.Singlestimulicandepolariseneuronsandevokemeasurableeffects.TrainsofstimulirepetitiveTMScanmodifyexcitabilityofthecerebralcortexatthestimulatedsiteandalsoatremoteareasalongfunctionalanatomicalconnections.TMSmightprovidenovelinsightsintothepathophysiologyoftheneuralcircuitryunderlyingneurologicalandpsychiatricdisordersbedevelopedintoclinicallyusefuldiagnosticandprognostictestsandhavetherapeuticusesinvariousdiseases.ThispotentialissupportedbytheavailablestudiesbutmoreworkisneededtoestablishtheroleofTMSinclinicalneurology.date2003sectionpartNumberpartTitleDOI10.1016S1474-44220300321-1citationKeyurlPMIDPMCIDISSNlanguagecollectionsN4AYKUMJdateModified2026-07-15T233318ZkeyQPI6VA9Tlibraryid19955111metacreatorSummaryHarrisonandWilsonparsedDate2005-06-01numChildren1bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtHarrisonAGWilsonJB.InattentionandDissociationOverlappingConstructsTheADHDReportInternet.2005June1cited2014June91339x201311.Availablefromltaclass039zp-ItemURL039href039httpguilfordjournals.comdoiabs10.1521adhd.2005.13.3.9039gthttpguilfordjournals.comdoiabs10.1521adhd.2005.13.3.9ltagtltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitleInattentionandDissociationOverlappingConstructscreatorscreatorTypeauthorfirstNameAllysonG.lastNameHarrisoncreatorTypeauthorfirstNameJanBakerlastNameWilsonabstractNoteEpithelialcellscontainpolaritycomplexesonthelateralmembraneandareorganizedinahexagon-dominatedpolygonalarray.Themechanismsregulatingtheorganizationofpolygonalarchitectureinmetazoanembryogenesisarenotcompletelyunderstood.Drosophilaembryogenesisenablesmechanisticanalysisofepithelialpolarityformationanditsimpactonpolygonalorganization.TheplasmamembranePMofsyncytialDrosophilablastodermembryosisorganizedasapolygonalarraywithpseudocleavagefurrowformationduringthealmostsynchronouscorticaldivisioncycles.WefindthatpolygonalPMorganizationarisesinthemetaphaseMPofdivisioncycle11andhexagondominanceoccurswithanincreaseinfurrowlengthinthemetaphaseofcycle12.Thereisadecreaseincellshapeindexinmetaphasefromcycles11to13.ThiscoincideswithDrosophilaE-cadDE-cadherinandBazookaenrichmentattheedgesandtheseptinPeanutattheverticesofthefurrow.Wefurtherassesstheroleofpolarityandadhesionproteinsinpseudocleavagefurrowformationanditsorganizationasapolygonalarray.WefindthatDE-cadherindepletionleadstodecreasedfurrowlengthlossofhexagondominanceandincreasedcellshapeindex.BazookaandPeanutdepletionleadtodecreasedfurrowlengthdelayinonsetofhexagondominancefromcycle12to13andincreasedcellshapeindex.Hexagondominanceoccurswithanincreaseinfurrowlengthincycle13andincreasedDE-cadherinpossiblyduetotheinhibitionofendocytosis.Weconcludethatpolarityproteinrecruitmentandregulationofendocyticpathwaysenablepseudocleavagefurrowstabilityandtheformationofahexagon-dominatedpolygonarray.dateJunio12005sectionpartNumberpartTitleDOI10.1521adhd.2005.13.3.9citationKeyurlhttpguilfordjournals.comdoiabs10.1521adhd.2005.13.3.9PMIDPMCIDISSN1065-8025languagecollectionsLPM7RYGLdateModified2026-07-15T233304ZkeyQJ8TXZPSlibraryid19955111metacreatorSummaryCampos-CastelloparsedDate1998numChildren1bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtCampos-CastelloJ.EvaluacixF3nneurolxF3gicadelostrastornosdelaprendizaje.RevNeurolInternet.1998cited2016Jan2927280x20135.Availablefromltaclass039zp-ItemURL039href039httpwww.neurologia.compdfweb27156f1560280.pdf039gthttpwww.neurologia.compdfweb27156f1560280.pdfltagtltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitleEvaluaciu00f3nneurolu00f3gicadelostrastornosdelaprendizajecreatorscreatorTypeauthorfirstNameJ.lastNameCampos-CastelloabstractNoteINTRODUCTIONTheneurologicalconceptoflearningisapproachedfromacyberneticpointofviewtakingintoaccountthatachildshouldrecognizeafactlearnitsemanticallyanddecidedwhetheritisworthstoringthedynamicaspectofmemoryisthetruemotoroftheabilitytolearnandallthisismodulatedbytheattentionfactor.DEVELOPMENTTheneurologicalevaluationoflearningdisordersisbasedonclinicalexaminationwhichincludestheso-calledminorsignsofthenoeticfunctionsspecificallylanguagethepraxesgnosiasperceptive-motorfunctionlateralityandthelexicalgraphicandcalculationfunctionstogetherwiththemodulatingelementmentionedaboveofthelevelofattentionwithorwithouthyperactivity.Thesesemiologicalelementsaregroupedintothreemajorcategoriesofsyndromesmotorsyndromedyslexic-dysgraphic-dyscalculationsyndromeandthehyperkineticsyndromeorattentiondeficitwithhyperactivity.Wealsonotethedifferentialdiagnosis.WereviewtheneurophysiologicalbiologicalmarkersEEGandbrainmappingcerebralevokedpotentialsneurometryandthosebasedonneuroimagingtechniquescerebralCTMRSPECTandPET.CONCLUSIONSThecontributionofneurologicalassessmentisconsideredaspartofthefunctionsofamulti-disciplinaryteamwhichshoulddealwiththediagnosisandtreatmentofchildrenwithlearningdisorders.date1998sectionpartNumberpartTitleDOI10.33588rn.27156.98110citationKeyurlhttpwww.neurologia.compdfweb27156f1560280.pdfPMIDPMCIDISSNlanguagecollections4JZQ5NTJdateModified2026-07-15T233238ZkeyQH8R5YR6libraryid19955111metacreatorSummaryMardisparsedDate2017numChildren1bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtMardisER.DNAsequencingtechnologies2006x20132016.NatProtocInternet.2017cited2019Aug31122213x20138.Availablefromltaclass039zp-ItemURL039href039httpwww.nature.comarticlesnprot.2016.182039gthttpwww.nature.comarticlesnprot.2016.182ltagtltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitleDNAsequencingtechnologies2006u20132016creatorscreatorTypeauthorfirstNameElaineRlastNameMardisabstractNoteRecentadvancesinthefieldofgenomicshavelargelybeenduetotheabilitytosequenceDNAatincreasingthroughputanddecreasingcost.DNAsequencingwasfirstintroducedin1977andnext-generationsequencingtechnologieshavebeenavailableonlyduringthepastdecadebutthediverseexperimentsandcorrespondinganalysesfacilitatedbythesetechniqueshavetransformedbiologicalandbiomedicalresearch.HereIreviewdevelopmentsinDNAsequencingtechnologiesoverthepast10yearsandlooktothefutureforfurtherapplications.date22017sectionpartNumberpartTitleDOI10.1038nprot.2016.182citationKeyurlhttpwww.nature.comarticlesnprot.2016.182PMIDPMCIDISSN1754-21891750-2799languageencollections84TR57I6dateModified2026-07-15T233226ZkeyQH5HVZVLlibraryid19955111metacreatorSummaryParchietal.parsedDate2012numChildren1bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtParchiPdeBoniLSaverioniDCohenMLFerrerIGambettiPetal.Consensusclassificationofhumanpriondiseasehistotypesallowsreliableidentificationofmolecularsubtypesaninter-raterstudyamongsurveillancecentresinEuropeandUSA.ActaNeuropathologicaInternet.2012cited2016Jan81244517x201329.Availablefromltaclass039zp-ItemURL039href039httplink.springer.com10.1007s00401-012-1002-8039gthttplink.springer.com10.1007s00401-012-1002-8ltagtltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitleConsensusclassificationofhumanpriondiseasehistotypesallowsreliableidentificationofmolecularsubtypesaninter-raterstudyamongsurveillancecentresinEuropeandUSAcreatorscreatorTypeauthorfirstNamePierolastNameParchicreatorTypeauthorfirstNameLauralastNamedeBonicreatorTypeauthorfirstNameDanielalastNameSaverionicreatorTypeauthorfirstNameMarkL.lastNameCohencreatorTypeauthorfirstNameIsidrolastNameFerrercreatorTypeauthorfirstNamePierluigilastNameGambetticreatorTypeauthorfirstNameEllenlastNameGelpicreatorTypeauthorfirstNameGiorgiolastNameGiacconecreatorTypeauthorfirstNameJean-JacqueslastNameHauwcreatorTypeauthorfirstNameRomanalastNameHu00f6ftbergercreatorTypeauthorfirstNameJamesW.lastNameIronsidecreatorTypeauthorfirstNameCasperlastNameJansencreatorTypeauthorfirstNameGaborG.lastNameKovacscreatorTypeauthorfirstNameAnnemiekelastNameRozemullercreatorTypeauthorfirstNameDaniellelastNameSeilheancreatorTypeauthorfirstNameFabriziolastNameTagliavinicreatorTypeauthorfirstNameArminlastNameGiesecreatorTypeauthorfirstNameHansA.lastNameKretzschmarabstractNoteThecurrentclassificationofhumansporadicpriondiseasesrecognizessixmajorphenotypicsubtypeswithdistinctiveclinicopathologicalfeatureswhichlargelycorrelateatthemolecularlevelwiththegenotypeatthepolymorphiccodon129methionineMorvalineVintheprionproteingeneandwiththesizeoftheprotease-resistantcoreoftheabnormalprionproteinPrPSci.e.type1migratingat21u00a0kDaandtype2at19u00a0kDa.WepreviouslydemonstratedthatPrPSctypingbyWesternblottingisareliablemeansofstraintypinganddiseaseclassification.LimitationsofthisapproachhoweverparticularlyintheinterlaboratorysettingaretheassociationofPrPSctypes1or2withmorethanoneclinicopathologicalphenotypewhichprecludesdefinitivecaseclassificationifnotsupportedbyfurtheranalysisandthedifficultyoffullyrecognizingcaseswithmixedphenotypicfeatures.Inthisstudywetestedtheinter-raterreliabilityofdiseaseclassificationbasedonlyonhistopathologicalcriteria.Slidesfrom21casescoveringthewholephenotypicspectrumofhumansporadicpriondiseasesandalsoincludingtwocasesofvariantCreutzfeldtu2013JakobdiseaseCJDweredistributedblindlyto13assessorsforclassificationaccordingtogiveninstructions.Theresultsshowedgood-to-excellentagreementbetweenassessorsintheclassificationofcases.Inparticulartherewasfullagreement100u00a0forthetwomostcommonsporadicCJDsubtypesandvariantCJDandveryhighconcordanceingeneralforallpurephenotypesandthemostcommonsubtypewithmixedphenotypicfeatures.ThepresentdatafullysupportthebasisforthecurrentclassificationofsporadichumanpriondiseasesandindicatethatbesidesmolecularPrPSctypinghistopathologicalanalysispermitsreliablediseaseclassificationwithhighinterlaboratoryaccuracy.date102012sectionpartNumberpartTitleDOI10.1007s00401-012-1002-8citationKeyurlhttplink.springer.com10.1007s00401-012-1002-8PMIDPMCIDISSN0001-63221432-0533languageencollections97422UXNVV74KMGPdateModified2026-07-15T233213ZkeyPPTP9ZGAlibraryid19955111metacreatorSummaryKhadilkaretal.parsedDate2016numChildren1bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtKhadilkarSJaggiSPatelBYadavRHanagandiPFariadoAmaralLL.Apracticalapproachtodiseasesaffectingdentatenuclei.ClinicalRadiologyInternet.2016cited2017Mar27711107x201319.Availablefromltaclass039zp-ItemURL039href039httplinkinghub.elsevier.comretrievepiiS0009926015003840039gthttplinkinghub.elsevier.comretrievepiiS0009926015003840ltagtltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitleApracticalapproachtodiseasesaffectingdentatenucleicreatorscreatorTypeauthorfirstNameS.lastNameKhadilkarcreatorTypeauthorfirstNameS.lastNameJaggicreatorTypeauthorfirstNameB.lastNamePatelcreatorTypeauthorfirstNameR.lastNameYadavcreatorTypeauthorfirstNameP.lastNameHanagandicreatorTypeauthorfirstNameL.L.lastNameFariadoAmaralabstractNoteAwidevarietyofdiseasesaffectthedentatenuclei.Whenfacedwiththeradiologicaldemonstrationofsignalchangesinthedentatenucleiradiologistsandclinicalneurologistshavetosievethroughthemanypossibilitieswhichtheydonotencounteronaregularbasis.Thistaskcanbechallengingandthereforedevelopingaclinicalradiologicalandlaboratoryapproachisimportant.Informationonthetopicisscatteredandthesubjecthasnotyetbeenreviewed.Inthisreviewacombinedclinicoradiologicalapproachispresented.ThesignalchangesinT1T2fluid-attenuatedinversionrecoveryFLAIRdiffusionsusceptibilityweightedandgadolinium-enhancedimagescangivespecificorhighlysuggestivepatternswhichareillustrated.TheroleofcomputedtomographyCTinthediagnosticprocessisdiscussed.Specificradiologicalpatternsdonotexistinasignificantproportionofpatientswheretheclinicalandlaboratoryanalysisbecomesimportant.InthisreviewwegrouptheclinicalconstellationstonarrowdownthedifferentialdiagnosisandhighlightthediagnosticclinicalsignssuchastendonxanthomasandKayser-Fleischerrings.Aswillbeseenanumberoftheseconditionsarepotentiallyreversibleandhencetheirearlydiagnosisisdesirable.Finallykeydiagnostictestsandavailabletherapiesareoutlined.Thepracticalapproachthusbeginswiththeradiologistandwindsitswaythroughthecliniciantowardscarefullyselecteddiagnostictestsdefiningthetherapyoptions.date012016sectionpartNumberpartTitleDOI10.1016j.crad.2015.09.010citationKeyurlhttplinkinghub.elsevier.comretrievepiiS0009926015003840PMIDPMCIDISSN00099260languageencollectionsRHJ4SR7BdateModified2026-07-15T233105ZkeyPJJ46NF2libraryid19955111metacreatorSummaryRoongrojBhidayasiriMDandMdparsedDate2012-01-01numChildren1bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtRoongrojBhidayasiriMDFMdDT.AdultOnsetTicDisorder.InMovementDisordersAVideoAtlasInternet.HumanaPress2012cited2013Sept13.p.236x20137.CurrentClinicalNeurology.Availablefromltaclass039zp-ItemURL039href039httplink.springer.comchapter10.1007978-1-60327-426-5_108039gthttplink.springer.comchapter10.1007978-1-60327-426-5_108ltagtltdivgtnltdivgtnltdivgtdataitemTypebookSectiontitleAdultOnsetTicDisordercreatorscreatorTypeauthorfirstNameFrcplastNameRoongrojBhidayasiriMDcreatorTypeauthorfirstNameDanielTarsylastNameMdabstractNoteAccordingtotheDSM-IV-TRcriteriathediagnosisofTourettesyndromeTSincludesonsetbeforetheageof18years.HoweverthesymptomsofTSmaypersistintoadulthoodandrarelyamajorticdisordermaybeginforthefirsttimeinadults.Comparedtochildhood-onsetTSadultpatientswithsevereticdisordershavesignificantlymorefacialandtruncalticsandthereisanassociationwithsubstanceabuseandmooddisorders.Theyhavefewerphonicticsandalowerincidenceofattentiondeficit-hyperactivitydisorder.Howevermostofthetimesevereticdisordersinadultsprobablyrepresentareappearanceorexacerbationofchildhood-onsetTS.bookTitleMovementDisordersAVideoAtlasdate20120101originalDateoriginalPublisheroriginalPlaceformatISBN978-1-60327-425-8978-1-60327-426-5DOI10.1007978-1-60327-426-5_108citationKeyurlhttplink.springer.comchapter10.1007978-1-60327-426-5_108ISSNlanguageencollections456LPJXWdateModified2026-07-15T233055ZkeyPHWN9YHYlibraryid19955111metacreatorSummaryLengletandCamdessanchu00e9parsedDate2017numChildren1bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtLengletTCamdessanchxE9JP.AmyotrophiclateralsclerosisornotKeysforthediagnosis.RevueNeurologiqueInternet.2017cited2017May251735280x20137.Availablefromltaclass039zp-ItemURL039href039httplinkinghub.elsevier.comretrievepiiS003537871730471X039gthttplinkinghub.elsevier.comretrievepiiS003537871730471XltagtltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitleAmyotrophiclateralsclerosisornotKeysforthediagnosiscreatorscreatorTypeauthorfirstNameT.lastNameLengletcreatorTypeauthorfirstNameJ.-P.lastNameCamdessanchu00e9abstractNoteAmyotrophiclateralsclerosisALSisadegenerativemotorneurondiseaseMNDwhichprognosisispoor.Earlydiagnosispermittosetupimmediatelyadaptedtreatmentandcares.Availablediagnosticcriteriaarebasedonthedetectionofbothcentralandperipheralmotorneuroninjuryinbulbarcervicalthoracicandlumbarregions.ElectrodiagnosticEDXtestsarethekeytoolstoidentifyperipheralmotorneuroninvolvement.Needleexaminationrecordsabnormalactivitiesatrestandlooksforneurogenicpatternduringmusclecontraction.Motorunitpotentialsmorphologyismodifiedprimarytorecruitment.Motorevokedpotentialsremainthetestofchoicetoidentifyimpairmentofcentralmotorneurons.IntheabsenceofdiagnosticbiomarkerofALSandamongessentialinvestigationsofsuspectedMNDacarefulclinicalandneurophysiologicalwork-upisessentialtoruleoutthedifferentialdiagnosis.date052017sectionpartNumberpartTitleDOI10.1016j.neurol.2017.04.003citationKeyurlhttplinkinghub.elsevier.comretrievepiiS003537871730471XPMIDPMCIDISSN00353787languageencollectionsTK7GJAHKdateModified2026-07-15T233054ZkeyF79XHIZIlibraryid19955111metacreatorSummaryRehmetal.parsedDate2015-05-27numChildren1bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtRehmHLBergJSBrooksLDBustamanteCDEvansJPLandrumMJetal.ClinGenx2014TheClinicalGenomeResource.NewEnglandJournalofMedicineInternet.2015May27cited2015May2900null.Availablefromltaclass039zp-ItemURL039href039httpdx.doi.org10.1056NEJMsr1406261039gthttpdx.doi.org10.1056NEJMsr1406261ltagtltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitleClinGenu2014TheClinicalGenomeResourcecreatorscreatorTypeauthorfirstNameHeidiL.lastNameRehmcreatorTypeauthorfirstNameJonathanS.lastNameBergcreatorTypeauthorfirstNameLisaD.lastNameBrookscreatorTypeauthorfirstNameCarlosD.lastNameBustamantecreatorTypeauthorfirstNameJamesP.lastNameEvanscreatorTypeauthorfirstNameMelissaJ.lastNameLandrumcreatorTypeauthorfirstNameDavidH.lastNameLedbettercreatorTypeauthorfirstNameDonnaR.lastNameMaglottcreatorTypeauthorfirstNameChristaLeselastNameMartincreatorTypeauthorfirstNameRobertL.lastNameNussbaumcreatorTypeauthorfirstNameSharonE.lastNamePloncreatorTypeauthorfirstNameErinM.lastNameRamoscreatorTypeauthorfirstNameStephenT.lastNameSherrycreatorTypeauthorfirstNameMichaelS.lastNameWatsonabstractNoteOnautopsyapatientisfoundtohavehypertrophiccardiomyopathy.Thepatientu2019sfamilypursuesgenetictestingthatshowsau201clikelypathogenicu201dvariantfortheconditiononthebasisofastudyinanoriginalresearchpublication.Giventhedominantinheritanceoftheconditionandtheriskofsuddencardiacdeathotherfamilymembersaretestedforthegeneticvarianttodeterminetheirrisk.Severalfamilymemberstestnegativeandaretoldthattheyarenotatriskforhypertrophiccardiomyopathyandsuddencardiacdeathandthosewhotestpositivearetoldthattheyneedtoberegularlymonitoredforcardiomyopathy...dateMayo272015sectionpartNumberpartTitleDOI10.1056NEJMsr1406261citationKeyurlhttpdx.doi.org10.1056NEJMsr1406261PMID26014595PMCIDISSN0028-4793languagecollectionsGAPPLHYVdateModified2026-07-15T233047ZkeyPCT6I3ULlibraryid19955111metacreatorSummaryVaidyaparsedDate2012-01-01numChildren2bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtVaidyaCJ.NeurodevelopmentalAbnormalitiesinADHD.InStanfordCTannockReditors.BehavioralNeuroscienceofAttentionDeficitHyperactivityDisorderandItsTreatmentInternet.SpringerBerlinHeidelberg2012cited2013Sept6.p.49x201366.CurrentTopicsinBehavioralNeurosciences.Availablefromltaclass039zp-ItemURL039href039httplink.springer.comchapter10.10077854_2011_138039gthttplink.springer.comchapter10.10077854_2011_138ltagtltdivgtnltdivgtnltdivgtdataitemTypebookSectiontitleNeurodevelopmentalAbnormalitiesinADHDcreatorscreatorTypeauthorfirstNameChandanJ.lastNameVaidyacreatorTypeeditorfirstNameClarelastNameStanfordcreatorTypeeditorfirstNameRosemarylastNameTannockabstractNoteStructuralandfunctionalimagingstudiesinsubjectswithattentiondeficithyperactivitydisorderADHDarereviewedwiththegoalofgleaninginformationaboutneurodevelopmentalabnormalitiescharacterizingthedisorder.StructuralimagingstudiesparticularlythosewithlongitudinaldesignssuggestthatbrainmaturationisdelayedbyafewyearsinADHD.Howeveramaturationaldelaymodelaloneisincompletealternatecoursesaresuggestedbydifferencesassociatedwithphenotypicfactorssuchassymptomremissionpersistenceandexposuretostimulanttreatment.Findingsfromfunctionalimagingstudiespointtomultiplelociofabnormalitiesthatarenotlimitedtofrontalu2013striatalcircuitrywhichisimportantforexecutiveandmotivationalfunctionbutalsoincludeparietaltemporalandmotorcorticesandthecerebellum.Howeveradefinitiveconclusionaboutmaturationaldelaysoralternatetrajectoriescannotbedrawnfromthisworkasactivationpatternsareinfluencedbytask-specificfactorsthatmayinducevariableperformancelevelsandstrategiesacrossdevelopment.Inadditionnostudieshaveimplementedcross-sectionalorlongitudinaldesignswithoutwhichthedevelopmentaloriginofdifferencesinactivationcannotbeinferred.Thuscurrenttask-evokedfunctionalimagingprovidesinformationaboutdynamicorstate-dependentdifferencesratherthanfixedortrait-relateddifferences.Inthefuturetask-freefunctionalimagingholdspromiseforrevealingneurodevelopmentalinformationthatisminimallyinfluencedbyperformancestrategicdifferences.FurtherstudiesusinglongitudinaldesignsthatidentifysourcesofphenotypicheterogeneityinbrainmaturationandcharacterizetherelationshipbetweenbrainfunctionandunderlyingstructuralpropertiesareneededtoprovideacomprehensiveviewofneurodevelopmentalabnormalitiesinADHD.bookTitleBehavioralNeuroscienceofAttentionDeficitHyperactivityDisorderandItsTreatmentdate20120101originalDateoriginalPublisheroriginalPlaceformatISBN978-3-642-24611-1978-3-642-24612-8DOI10.10077854_2011_138citationKeyurlhttplink.springer.comchapter10.10077854_2011_138ISSNlanguageencollectionsTAMMWMJWdateModified2026-07-15T233031ZkeyPBEWZP3Mlibraryid19955111metacreatorSummaryJeeandBaronparsedDate2016numChildren1bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtJeeYHBaronJ.TheBiologyofStature.TheJournalofPediatricsInternet.2016cited2018Mar1217332x20138.Availablefromltaclass039zp-ItemURL039href039httplinkinghub.elsevier.comretrievepiiS0022347616002912039gthttplinkinghub.elsevier.comretrievepiiS0022347616002912ltagtltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitleTheBiologyofStaturecreatorscreatorTypeauthorfirstNameYounHeelastNameJeecreatorTypeauthorfirstNameJeffreylastNameBaronabstractNoteFromtheSectiononGrowthandDevelopmentEuniceKennedyShriverNationalostpediatriciansareattunedtotheirpatientsu2019lineargrowthheightgain.Ateachvisitthechildu2019sheightshouldbecarefullymeasuredandplotted.Thecliniciancanthenscrutinizethetemporalpatternandifthelineargrowthappearsabnormalinitiateaninvestigationtouncovertheunderlyingproblem.Despitethiscloseinterestinourpatientsu2019staturalgainslineargrowthitselfoftenisconsideredasau201cblackboxu201damysteriousprocessregulatedbynutritionhormonesgeneticsandoverallhealth.Recentlytherehavebeenexcitingadvancesinunderstandingthebiologicalbasisoflineargrowth.Wehavegainednewinsightsastowhylineargrowthisrapidininfancythenslowsinchildhoodacceleratesinadolescencethenslowsagainandceasesbyadulthood.Wenowunderstandmuchbetterthemechanismsbywhichhormonesnutritionandsystemicillnessregulatelineargrowth.PerhapsmostexcitinggenomewideassociationGWAstudiesandexomesequencinghavebeguntoidentifynumerousnovelgenesthatregulatelineargrowthandwhenmutatedcausechildhoodgrowthdisorders.Tounderstandtheseimportantnewfindingsandtheirimplicationsforourpatientswemustlookinsidetheblackboxoflineargrowth.Justaswecanonlyunderstandchildrenu2019srespiratoryphysiologyintermsoflungbiologysotoowecanonlyunderstandlineargrowthandgrowthdisordersintermsoftheunderlyingbiologicalprocessgrowthplatechondrogenesis.date062016sectionpartNumberpartTitleDOI10.1016j.jpeds.2016.02.068citationKeyurlhttplinkinghub.elsevier.comretrievepiiS0022347616002912PMIDPMCIDISSN00223476languageencollectionsV6WCLXGLdateModified2026-07-15T233012ZkeyP88B76NMlibraryid19955111metacreatorSummaryAccardoetal.parsedDate2004numChildren1bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtAccardoJKammannHHoonJrAH.Neuroimagingincerebralpalsy.TheJournalofPediatricsInternet.2004cited2016Mar101452S19x201327.Availablefromltaclass039zp-ItemURL039href039httplinkinghub.elsevier.comretrievepiiS0022347604004147039gthttplinkinghub.elsevier.comretrievepiiS0022347604004147ltagtltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitleNeuroimagingincerebralpalsycreatorscreatorTypeauthorfirstNameJenniferlastNameAccardocreatorTypeauthorfirstNameHeatherlastNameKammanncreatorTypeauthorfirstNameAlexanderH.lastNameHoonJrabstractNoteParentsandcliniciansconcernedabouthigh-riskinfantsandchildrenwithmotordelayorcerebralpalsyseekinformationoncausetreatmentprognosisandrecurrencerisk.Usedincombinationwithhistoryandexaminationneuroimagingstudiescanimprovediagnosisandmanagement.Inprematureinfantscranialultrasoundisareliablenoninvasivediagnosticmodality.Nuclearmagneticresonancetechniquesincludingmagneticresonanceimaginganddiffusionweightedimagingcanbeusedeffectivelyinneonatalencephalopathies.Inchildrenwithmotordelayandcerebralpalsysyndromesincludingspasticdiplegiaquadriplegiahemiplegiaandextrapyramidalmovementdisordersconventionalmagneticresonanceimaginghasbecomeanimportantdeterminantofdiagnosisandmanagement.Theaimofthisarticleistohelpcliniciansselectandinterpretimagingstudiesofbenefitinclinicalcare.date82004sectionpartNumberpartTitleDOI10.1016j.jpeds.2004.05.018citationKeyurlhttplinkinghub.elsevier.comretrievepiiS0022347604004147PMIDPMCIDISSN00223476languageencollections7L3LPGBNdateModified2026-07-15T232956ZkeyP5MGCLMNlibraryid19955111metacreatorSummaryCortu00e8s-Saladelafontetal.parsedDate2016numChildren4bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtCortxE8s-SaladelafontETristxE1n-NogueroAArtuchRAltafajXBayxE8sAGarcxEDa-CazorlaA.DiseasesoftheSynapticVesicleAPotentialNewGroupofNeurometabolicDisordersAffectingNeurotransmission.SeminarsinPediatricNeurologyInternet.2016cited2017Nov17234306x201320.Availablefromltaclass039zp-ItemURL039href039httplinkinghub.elsevier.comretrievepiiS1071909116300353039gthttplinkinghub.elsevier.comretrievepiiS1071909116300353ltagtltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitleDiseasesoftheSynapticVesicleAPotentialNewGroupofNeurometabolicDisordersAffectingNeurotransmissioncreatorscreatorTypeauthorfirstNameE.lastNameCortu00e8s-SaladelafontcreatorTypeauthorfirstNameA.lastNameTristu00e1n-NoguerocreatorTypeauthorfirstNameR.lastNameArtuchcreatorTypeauthorfirstNameX.lastNameAltafajcreatorTypeauthorfirstNameA.lastNameBayu00e8screatorTypeauthorfirstNameA.lastNameGarcu00eda-CazorlaabstractNoteThegeneralconceptofinbornerrorofmetabolismiscurrentlyevolvingintotheinterfacebetweenclassicalbiochemistryandcellularbiology.Basicneuroscienceisprovidingincreasingknowledgeaboutthemechanismsofneurotransmissionandnovelrelateddisordersarebeingdescribed.ThereisanecessityofupdatingtheclassicconceptofquotinbornerrorofneurotransmittersNTquotthatconsidersmainlydefectsofsynthesisandcatabolismandtransportoflowweightNTmolecules.MonogenicdefectsofthesynapticvesicleSVandespeciallythoseaffectingtheSVcycleareapotentialnewgroupofNTdisorderssincetheyendupinabnormalNTturnoverandrelease.Themostcommonclinicalmanifestationsincludeepilepsyintellectualdisabilityautismandmovementdisordersandareinthecontinuumsymptomsofsynaptopathies.InterestinglybrainmalformationsandneurodegenerativeconditionsarealsopresentwithinSVdiseases.Metabolomicsproteomicsandother-omictechniquesprobablywillprovidebiomarkersandcontributetotherapeutictargetsinthefuture.date112016sectionpartNumberpartTitleDOI10.1016j.spen.2016.11.005citationKeyurlhttplinkinghub.elsevier.comretrievepiiS1071909116300353PMIDPMCIDISSN10719091languageencollectionsHMLTG4EPPT8BRAHRX39KP3EMXJL5V5G5dateModified2026-07-15T232934ZkeyP3PK2UC5libraryid19955111metacreatorSummaryvanEgmondetal.parsedDate2015numChildren1bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtvanEgmondMEEltingJWJKuiperAZuttRHeinemanKRBrouwerOFetal.Myoclonusinchildhood-onsetneurogeneticdisordersTheimportanceofearlyidentificationandtreatment.EuropeanJournalofPaediatricNeurologyInternet.2015cited2016Oct14196726x20139.Availablefromltaclass039zp-ItemURL039href039httplinkinghub.elsevier.comretrievepiiS1090379815001312039gthttplinkinghub.elsevier.comretrievepiiS1090379815001312ltagtltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitleMyoclonusinchildhood-onsetneurogeneticdisordersTheimportanceofearlyidentificationandtreatmentcreatorscreatorTypeauthorfirstNameMartjeE.lastNamevanEgmondcreatorTypeauthorfirstNameJanWillemJ.lastNameEltingcreatorTypeauthorfirstNameAnouklastNameKuipercreatorTypeauthorfirstNameRodilastNameZuttcreatorTypeauthorfirstNameKirstenR.lastNameHeinemancreatorTypeauthorfirstNameOebeleF.lastNameBrouwercreatorTypeauthorfirstNameDeborahA.lastNameSivalcreatorTypeauthorfirstNameMichelA.lastNameWillemsencreatorTypeauthorfirstNameMarinaA.J.lastNameTijssencreatorTypeauthorfirstNameTomJ.lastNamedeKoningabstractNoteInclinicalpracticemyoclonusinchildhood-onsetneurogeneticdisordersfrequentlyremainsunrecognizedbecauseitisoftenovershadowedbyotherneurologicalfeatures.Sincetreatmentcanleadtosignificantfunctionalimprovementaccuratephenotypingisessential.Todemonstratetheimportanceofearlyidentificationandtreatmentwereportonfourpatientswithvariouschildhood-onsetneurogeneticdisorderssufferingfrommyoclonus.date112015sectionpartNumberpartTitleDOI10.1016j.ejpn.2015.07.003citationKeyurlhttplinkinghub.elsevier.comretrievepiiS1090379815001312PMIDPMCIDISSN10903798languageencollectionsGFTTRZ76dateModified2026-07-15T232913ZkeyNSGZSHENlibraryid19955111metacreatorSummaryGrossandGrossmanparsedDate2008numChildren0bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtGrossRGGrossmanM.Updateonapraxia.Currentneurologyandneurosciencereports.200886490x20136.ltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitleUpdateonapraxiacreatorscreatorTypeauthorfirstNameR.GlastNameGrosscreatorTypeauthorfirstNameM.lastNameGrossmanabstractNoteApraxiaisclassicallydefinedasdifficultyperforminglearnedskilledgestures.Inthisreviewwedescribetherangeofmotorimpairmentsclassifiedasapraxiafocusingonideomotorlimbapraxia.Wepresentseveralprominentmodelsofpraxistoexplainthevarietyofdifficultiesseeninpatientswithapraxia.Wealsodiscussthelarge-scalefrontal-parietal-basalganglianetworkthoughttounderliepraxis.Inthiscontextwehighlightthecommonoccurrenceoflimbapraxiaincorticobasaldegenerationaneurodegenerativeconditioncharacterizedbyfrontalparietalandbasalgangliadisease.date2008sectionpartNumberpartTitleDOI10.1007s11910-008-0078-ycitationKeyurlPMIDPMCIDISSNlanguagecollectionsT5K9MLH4dateModified2026-07-15T232854ZkeyNME9SUCXlibraryid19955111metacreatorSummaryDesaiandMullinsparsedDate2014-03numChildren1bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtDesaiNKMullinsME.AnImagingApproachtoDiffuseWhiteMatterChanges.RadiologicClinicsofNorthAmericaInternet.2014Marcited2014Apr28522263x201378.Availablefromltaclass039zp-ItemURL039href039httpwww.sciencedirect.comsciencearticlepiiS0033838913002133039gthttpwww.sciencedirect.comsciencearticlepiiS0033838913002133ltagtltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitleAnImagingApproachtoDiffuseWhiteMatterChangescreatorscreatorTypeauthorfirstNameNileshK.lastNameDesaicreatorTypeauthorfirstNameMarkE.lastNameMullinsabstractNoteWhitematterdisordersrepresentalargeheterogeneousgroupofdisordersthatspanthecontinuumofcongenitalmetabolicdisorderstoacquiredprocessessuchaschronicischemicmicrovascularwhitematterdisease.Magneticresonanceimaginghasdramaticallyrevolutionizedthediagnosticevaluationofpatientswiththesediseaseprocesses.dateMarzo2014sectionpartNumberpartTitleDOI10.1016j.rcl.2013.11.006citationKeyurlhttpwww.sciencedirect.comsciencearticlepiiS0033838913002133PMIDPMCIDISSN0033-8389languagecollections5S44NYF2dateModified2026-07-15T232827ZkeyNIGD9SRHlibraryid19955111metacreatorSummaryPranzatelliparsedDate2003numChildren1bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtPranzatelliMR.Myoclonusinchildhood.SeminarsinpediatricneurologyInternet.2003cited2017Sept191041x201351.Availablefromltaclass039zp-ItemURL039href039httpwww.sciencedirect.comsciencearticlepiiS1071909102000086039gthttpwww.sciencedirect.comsciencearticlepiiS1071909102000086ltagtltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitleMyoclonusinchildhoodcreatorscreatorTypeauthorfirstNameMichaelR.lastNamePranzatelliabstractNoteThetermquotmyoclonusquotsoundsesotericyetitispartofournormalphysiologyoccurringasamusclejerkondrowsinessorfallingasleepduringrapideyemovementREMsleepandashiccoughs.Myoclonusisalsoadevelopmentalfeatureofthehumannervoussystemcomprisingsomeoftheearliestfetalmovements.Inpathologicsettingsmyoclonusmaybetheonlyneurologicabnormalityasinessentialmyoclonusbutmoreoftenitisonesymptomofalargerneurologicproblem.Thevastetiologicspectrumofsymptomaticmyoclonuscanbebewilderingbutdefiningtheunderlyingproblemmayprovidetheopportunitytodevelopspecifictherapies.Otherwisetreatmentismerelysymptomatic.Theapproachtothepatientshouldbetoverifythenatureofthemovementdisorderandestablishaspecificetiologicdiagnosis.Abatteryofneurophysiologicneuroradiologicandotherlaboratorystudiesisneededtolocalizetheoriginofthemyoclonusandidentifycausativelesions.Drugtreatmentislargelyempiricbutmustbesystematicandaimedatrestoringactivitiesofeverydayliving.Unlikeinepilepsiesinmyoclonusmultipledrugsusuallymustbecombinedtoattainfunctionalimprovement.date2003sectionpartNumberpartTitleDOI10.1016S1071-90910200008-6citationKeyurlhttpwww.sciencedirect.comsciencearticlepiiS1071909102000086PMIDPMCIDISSNlanguagecollections4F4AKIJ8dateModified2026-07-15T232759ZkeyNCB8QZHIlibraryid19955111metacreatorSummaryGeyerandBressmanparsedDate2006numChildren1bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtGeyerHLBressmanSB.Thediagnosisofdystonia.TheLancetNeurology.200659780x201390.ltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitleThediagnosisofdystoniacreatorscreatorTypeauthorfirstNameH.L.lastNameGeyercreatorTypeauthorfirstNameS.B.lastNameBressmanabstractNoteDystoniaisamovementdisorderwithmanypresentationsanddiversecauses.Asystematicapproachtodystoniahelpstoensurethatpatientswiththisdisorderreceiveoptimumcare.ThisReviewbeginswithasummaryoftheclinicalfeaturesofdystoniafollowedbyadiscussionofotherdisorderstobeconsideredandexcludedbeforeassigningthediagnosisofdystonia.Nextweemphasisetheimportanceofclassifyingdystoniaalongseveraldimensionsandweexplainhowdoingsoaidsinnarrowingthedifferentialdiagnosis.Themorecommonformsofdystoniaarediscussedindetail.Finallywedescribehowtoapplytheclinicalinformationforselectionofappropriatelaboratoryinvestigations.date2006sectionpartNumberpartTitleDOI10.1016S1474-44220670547-6citationKeyurlPMIDPMCIDISSNlanguagecollections3PVRP6KUdateModified2026-07-15T232732Z
1.
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
1.
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):3625–33. Available from: https://www.nature.com/articles/s41380-020-0858-6
1.
Bhagwat C, Sankhyan N. Vitamin responsive conditions in pediatric neurology. Karnataka Paediatr J [Internet]. 2021 June 2 [cited 2026 Aug 25];36(1):42–8. Available from: https://iap-kpj.org/vitamin-responsive-conditions-in-pediatric-neurology/
1.
Hartmann H. Critical vitamins not to forget in pediatric 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
1.
UBC Neuroanatomy [Internet]. [cited 2026 July 22]. Available from: https://www.neuroanatomy.ca/
1.
EBRAINS. Human Brain Atlas | EBRAINS [Internet]. [cited 2026 July 22]. Available from: https://ebrains.eu/data-tools-services/brain-atlases/human-brain
1.
Atlas of Functional Neuroanatomy [Internet]. [cited 2026 July 22]. Available from: https://www.atlasbrain.com/
1.
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):444–51. Available from: https://www.nature.com/articles/gim2017125
1.
Wojcik MH, Reuter CM, Marwaha S, Mahmoud M, Duyzend MH, Barseghyan H, et al. Beyond the exome: What’s next in diagnostic testing for Mendelian conditions. The American Journal of Human Genetics [Internet]. 2023 Aug 3 [cited 2026 July 21];110(8):1229–48. Available from: https://www.sciencedirect.com/science/article/pii/S0002929723002100
1.
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):1257–65.
1.
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):725–30. Available from: http://www.nature.com/pr/journal/v48/n6/abs/pr2000265a.html
1.
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):1117–20. Available from: http://doi.wiley.com/10.1002/ajmg.a.36970
1.
Thevathasan W, Gregory R. Deep brain stimulation for movement disorders. Practical neurology. 2010;10(1):16–26.
1.
Tristano AG. Neurological adverse events associated with anti-tumor necrosis factor alpha treatment. J Neurol [Internet]. 2010 [cited 2011 June 29];257(9):1421–31. Available from: http://www.springerlink.com/content/32042367g7x3l352/
1.
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):580–5. Available from: http://www.cell.com/article/S1364661314002022/abstract
1.
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):241–8. Available from: http://link.springer.com/10.1007/s12402-014-0132-3
1.
Crow YJ, Manel N. Aicardi–Goutières syndrome and the type I interferonopathies. Nature Reviews Immunology [Internet]. 2015 June 5 [cited 2016 Sept 5];15(7):429–40. Available from: http://www.nature.com/doifinder/10.1038/nri3850
1.
Liu P, Erez A, Nagamani SCS, Dhar SU, Kołodziejska 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):889–903. Available from: https://www.cell.com/cell/abstract/S0092-8674(11)00885-3
1.
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):664–85. Available from: https://www.cell.com/ajhg/abstract/S0002-9297(17)30377-4
1.
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):375–87. Available from: http://linkinghub.elsevier.com/retrieve/pii/S1364661318300184
1.
Jackson JR, Eaton WW, Cascella NG, Fasano A, Kelly DL. Neurological and Psychiatric Manifestations of Celiac Disease and Gluten Sensitivity. Psychiatric Quarterly [Internet]. 2012 [cited 2014 Aug 29];83(1):91–102. Available from: http://link.springer.com/10.1007/s11126-011-9186-y
1.
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):97–117. Available from: http://linkinghub.elsevier.com/retrieve/pii/S0887217113000863
1.
Aldaz A, Ferriols R, Aumente D, Calvo MV, Farre MR, García B, et al. Pharmacokinetic monitoring of antiepileptics. Hospital Pharmacy [Internet]. 2011 [cited 2015 Aug 8];35(6):326–39. Available from: http://linkinghub.elsevier.com/retrieve/pii/S1130634311000560
1.
Epilepsy and Neurodevelopmental Disorders [Internet]. Clinical Gate. 2015. Available from: https://clinicalgate.com/epilepsy-and-neurodevelopmental-disorders/
1.
Metzker ML. Sequencing technologies—the next generation. Nature Reviews Genetics [Internet]. 2010 [cited 2016 Sept 30];11(1):31–46. Available from: http://www.nature.com/doifinder/10.1038/nrg2626
1.
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):e1–4. Available from: http://linkinghub.elsevier.com/retrieve/pii/S2212826314000487
1.
Bressman SB. Genetics of dystonia: an overview. Parkinsonism & related disorders [Internet]. 2007 [cited 2016 Mar 10];13:S347–55. Available from: http://www.sciencedirect.com/science/article/pii/S1353802008700294
1.
Rehm HL. Disease-targeted sequencing: a cornerstone in the clinic. Nature Reviews Genetics [Internet]. 2013 Mar 12 [cited 2016 Sept 6];14(4):295–300. Available from: http://www.nature.com/doifinder/10.1038/nrg3463
1.
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):173–86. Available from: http://www.sciencedirect.com/science/article/pii/S1047965111001100
1.
Toledo-Alberola F, Betlloch-Mas I. Annular erythemas in childhood. Dermo-Sifiliographic Records [Internet]. 2010 [cited 2014 Nov 3];101(6):473–84. Available from: http://www.actasdermo.org/es/eritemas-anulares-infancia/articulo/13154280/
1.
Schneider SA, Bhatia KP. Rare Causes of Dystonia Parkinsonism. Current Neurology and Neuroscience Reports [Internet]. 2010 Aug 7 [cited 2012 Mar 26];10(6):431–9. Available from: http://www.springerlink.com/index/10.1007/s11910-010-0136-0
1.
Continuum: Clinical cases - Neurological Pathology [Internet]. [cited 2026 July 13]. Available from: https://continuum.aeped.es/courses/info/1279
1.
Kobayashi M, Pascual-Leone A. Transcranial magnetic stimulation in neurology. The Lancet Neurology. 2003;2(3):145–56.
1.
Harrison AG, Wilson JB. Inattention and Dissociation: Overlapping Constructs? The ADHD Report [Internet]. 2005 June 1 [cited 2014 June 9];13(3):9–11. Available from: http://guilfordjournals.com/doi/abs/10.1521/adhd.2005.13.3.9
1.
Campos-Castello J. Neurological evaluation of learning disorders. Rev Neurol [Internet]. 1998 [cited 2016 Jan 29];27:280–5. Available from: http://www.neurologia.com/pdf/web/27156/f1560280.pdf
1.
Mardis ER. DNA sequencing technologies: 2006–2016. Nat Protoc [Internet]. 2017 [cited 2019 Aug 31];12(2):213–8. Available from: http://www.nature.com/articles/nprot.2016.182
1.
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 centers in Europe and USA. Acta Neuropathologica [Internet]. 2012 [cited 2016 Jan 8];124(4):517–29. Available from: http://link.springer.com/10.1007/s00401-012-1002-8
1.
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):107–19. Available from: http://linkinghub.elsevier.com/retrieve/pii/S0009926015003840
1.
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. 236–7. (Current Clinical Neurology). Available from: http://link.springer.com/chapter/10.1007/978-1-60327-426-5_108
1.
Lenglet T, Camdessanché JP. Amyotrophic lateral sclerosis or not: Keys for the diagnosis. Revue Neurologique [Internet]. 2017 [cited 2017 May 25];173(5):280–7. Available from: http://linkinghub.elsevier.com/retrieve/pii/S003537871730471X
1.
Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, et al. ClinGen—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
1.
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. 49–66. (Current Topics in Behavioral Neurosciences). Available from: http://link.springer.com/chapter/10.1007/7854_2011_138
1.
Jee YH, Baron J. The Biology of Stature. The Journal of Pediatrics [Internet]. 2016 [cited 2018 Mar 12];173:32–8. Available from: http://linkinghub.elsevier.com/retrieve/pii/S0022347616002912
1.
Accardo J, Kammann H, Hoon Jr AH. Neuroimaging in cerebral palsy. The Journal of Pediatrics [Internet]. 2004 [cited 2016 Mar 10];145(2):S19–27. Available from: http://linkinghub.elsevier.com/retrieve/pii/S0022347604004147
1.
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 Pediatric Neurology [Internet]. 2015 [cited 2016 Oct 14];19(6):726–9. Available from: http://linkinghub.elsevier.com/retrieve/pii/S1090379815001312
1.
Gross RG, Grossman M. Update on apraxia. Current neurology and neuroscience reports. 2008;8(6):490–6.
1.
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):263–78. Available from: http://www.sciencedirect.com/science/article/pii/S0033838913002133
1.
Pranzatelli MR. Myoclonus in childhood. Seminars in pediatric neurology [Internet]. 2003 [cited 2017 Sept 19];10:41–51. Available from: http://www.sciencedirect.com/science/article/pii/S1071909102000086
1.
Geyer HL, Bressman SB. The diagnosis of dystonia. The Lancet Neurology. 2006;5(9):780–90.
]