332710
{332710:45693V7P}
vancouver
50
4930
https://neuropediatoolkit.org/wp-content/plugins/zotpress/
%7B%22status%22%3A%22success%22%2C%22updateneeded%22%3Afalse%2C%22instance%22%3A%22zotpress-8fa27f6449b859cef769f52205c77e28%22%2C%22meta%22%3A%7B%22request_last%22%3A0%2C%22request_next%22%3A0%2C%22used_cache%22%3Atrue%7D%2C%22data%22%3A%5B%7B%22key%22%3A%2245693V7P%22%2C%22library%22%3A%7B%22id%22%3A332710%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22McTague%20et%20al.%22%2C%22parsedDate%22%3A%222016-03-01%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%201.35%3B%20%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%20style%3D%5C%22clear%3A%20left%3B%20%5C%22%3E%5Cn%20%20%20%20%3Cdiv%20class%3D%5C%22csl-left-margin%5C%22%20style%3D%5C%22float%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%5C%22%3E1.%3C%5C%2Fdiv%3E%3Cdiv%20class%3D%5C%22csl-right-inline%5C%22%20style%3D%5C%22margin%3A%200%20.4em%200%201.5em%3B%5C%22%3EMcTague%20A%2C%20Howell%20KB%2C%20Cross%20JH%2C%20Kurian%20MA%2C%20Scheffer%20IE.%20The%20genetic%20landscape%20of%20the%20epileptic%20encephalopathies%20of%20infancy%20and%20childhood.%20The%20Lancet%20Neurology%20%5BInternet%5D.%202016%20Mar%201%20%5Bcited%202023%20Mar%208%5D%3B15%283%29%3A304%26%23x2013%3B16.%20Available%20from%3A%20%3Ca%20href%3D%27https%3A%5C%2F%5C%2Fwww.thelancet.com%5C%2Fjournals%5C%2Flaneur%5C%2Farticle%5C%2FPIIS1474-4422%252815%252900250-1%5C%2Ffulltext%27%3Ehttps%3A%5C%2F%5C%2Fwww.thelancet.com%5C%2Fjournals%5C%2Flaneur%5C%2Farticle%5C%2FPIIS1474-4422%252815%252900250-1%5C%2Ffulltext%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%20%20%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22The%20genetic%20landscape%20of%20the%20epileptic%20encephalopathies%20of%20infancy%20and%20childhood%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Amy%22%2C%22lastName%22%3A%22McTague%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Katherine%20B.%22%2C%22lastName%22%3A%22Howell%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22J.%20Helen%22%2C%22lastName%22%3A%22Cross%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Manju%20A.%22%2C%22lastName%22%3A%22Kurian%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Ingrid%20E.%22%2C%22lastName%22%3A%22Scheffer%22%7D%5D%2C%22abstractNote%22%3A%22%22%2C%22date%22%3A%222016-03-01%22%2C%22language%22%3A%22English%22%2C%22DOI%22%3A%2210.1016%5C%2FS1474-4422%2815%2900250-1%22%2C%22ISSN%22%3A%221474-4422%2C%201474-4465%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fwww.thelancet.com%5C%2Fjournals%5C%2Flaneur%5C%2Farticle%5C%2FPIIS1474-4422%252815%252900250-1%5C%2Ffulltext%22%2C%22collections%22%3A%5B%22E8U5N6TS%22%5D%2C%22dateModified%22%3A%222023-03-08T07%3A00%3A32Z%22%7D%7D%5D%7D
1.
McTague A, Howell KB, Cross JH, Kurian MA, Scheffer IE. The genetic landscape of the epileptic encephalopathies of infancy and childhood. The Lancet Neurology [Internet]. 2016 Mar 1 [cited 2023 Mar 8];15(3):304–16. Available from: https://www.thelancet.com/journals/laneur/article/PIIS1474-4422%2815%2900250-1/fulltext
332710
{332710:YZQ4EQ88}
vancouver
50
4930
https://neuropediatoolkit.org/wp-content/plugins/zotpress/
%7B%22status%22%3A%22success%22%2C%22updateneeded%22%3Afalse%2C%22instance%22%3A%22zotpress-03145c529035a635ec1953d953a0949c%22%2C%22meta%22%3A%7B%22request_last%22%3A0%2C%22request_next%22%3A0%2C%22used_cache%22%3Atrue%7D%2C%22data%22%3A%5B%7B%22key%22%3A%22YZQ4EQ88%22%2C%22library%22%3A%7B%22id%22%3A332710%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Syrbe%22%2C%22parsedDate%22%3A%222022-10-31%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%201.35%3B%20%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%20style%3D%5C%22clear%3A%20left%3B%20%5C%22%3E%5Cn%20%20%20%20%3Cdiv%20class%3D%5C%22csl-left-margin%5C%22%20style%3D%5C%22float%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%5C%22%3E1.%3C%5C%2Fdiv%3E%3Cdiv%20class%3D%5C%22csl-right-inline%5C%22%20style%3D%5C%22margin%3A%200%20.4em%200%201.5em%3B%5C%22%3ESyrbe%20S.%20Developmental%20and%20epileptic%20encephalopathies%20%26%23x2013%3B%20therapeutic%20consequences%20of%20genetic%20testing.%20Medizinische%20Genetik%20%5BInternet%5D.%202022%20Oct%2031%20%5Bcited%202023%20Mar%208%5D%3B34%283%29%3A215%26%23x2013%3B24.%20Available%20from%3A%20%3Ca%20href%3D%27https%3A%5C%2F%5C%2Fwww.degruyter.com%5C%2Fdocument%5C%2Fdoi%5C%2F10.1515%5C%2Fmedgen-2022-2145%5C%2Fhtml%27%3Ehttps%3A%5C%2F%5C%2Fwww.degruyter.com%5C%2Fdocument%5C%2Fdoi%5C%2F10.1515%5C%2Fmedgen-2022-2145%5C%2Fhtml%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%20%20%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Developmental%20and%20epileptic%20encephalopathies%20%5Cu2013%20therapeutic%20consequences%20of%20genetic%20testing%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Steffen%22%2C%22lastName%22%3A%22Syrbe%22%7D%5D%2C%22abstractNote%22%3A%22Developmental%20and%20epileptic%20encephalopathies%20comprise%20a%20heterogeneous%20group%20of%20monogenic%20neurodevelopmental%20disorders%20characterized%20by%20early-onset%20seizures%2C%20marked%20epileptic%20activity%20and%20abnormal%20neurocognitive%20development.%20The%20identification%20of%20an%20increasing%20number%20of%20underlying%20genetic%20alterations%20and%20their%20pathophysiological%20roles%20in%20cellular%20signaling%20drives%20the%20way%20toward%20novel%20precision%20therapies.%20The%20implementation%20of%20novel%20treatments%20that%20target%20the%20underlying%20mechanisms%20gives%20hope%20for%20disease%20modification%20that%20will%20improve%20not%20only%20the%20seizure%20burden%20but%20also%20the%20neurodevelopmental%20outcome%20of%20affected%20children.%20So%20far%2C%20beneficial%20effects%20are%20mostly%20reported%20in%20individual%20trials%20and%20small%20numbers%20of%20patients.%20There%20is%20a%20need%20for%20international%20collaborative%20studies%20to%20define%20the%20natural%20history%20and%20relevant%20outcome%20measures%20and%20to%20test%20novel%20pharmacological%20approaches.%22%2C%22date%22%3A%222022-10-31%22%2C%22language%22%3A%22en%22%2C%22DOI%22%3A%2210.1515%5C%2Fmedgen-2022-2145%22%2C%22ISSN%22%3A%221863-5490%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fwww.degruyter.com%5C%2Fdocument%5C%2Fdoi%5C%2F10.1515%5C%2Fmedgen-2022-2145%5C%2Fhtml%22%2C%22collections%22%3A%5B%22E8U5N6TS%22%5D%2C%22dateModified%22%3A%222023-03-08T07%3A02%3A05Z%22%7D%7D%5D%7D
1.
Syrbe S. Developmental and epileptic encephalopathies – therapeutic consequences of genetic testing. Medizinische Genetik [Internet]. 2022 Oct 31 [cited 2023 Mar 8];34(3):215–24. Available from: https://www.degruyter.com/document/doi/10.1515/medgen-2022-2145/html
332710
{332710:YZQ4EQ88}
vancouver
50
4930
https://neuropediatoolkit.org/wp-content/plugins/zotpress/
%7B%22status%22%3A%22success%22%2C%22updateneeded%22%3Afalse%2C%22instance%22%3A%22zotpress-03145c529035a635ec1953d953a0949c%22%2C%22meta%22%3A%7B%22request_last%22%3A0%2C%22request_next%22%3A0%2C%22used_cache%22%3Atrue%7D%2C%22data%22%3A%5B%7B%22key%22%3A%22YZQ4EQ88%22%2C%22library%22%3A%7B%22id%22%3A332710%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Syrbe%22%2C%22parsedDate%22%3A%222022-10-31%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%201.35%3B%20%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%20style%3D%5C%22clear%3A%20left%3B%20%5C%22%3E%5Cn%20%20%20%20%3Cdiv%20class%3D%5C%22csl-left-margin%5C%22%20style%3D%5C%22float%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%5C%22%3E1.%3C%5C%2Fdiv%3E%3Cdiv%20class%3D%5C%22csl-right-inline%5C%22%20style%3D%5C%22margin%3A%200%20.4em%200%201.5em%3B%5C%22%3ESyrbe%20S.%20Developmental%20and%20epileptic%20encephalopathies%20%26%23x2013%3B%20therapeutic%20consequences%20of%20genetic%20testing.%20Medizinische%20Genetik%20%5BInternet%5D.%202022%20Oct%2031%20%5Bcited%202023%20Mar%208%5D%3B34%283%29%3A215%26%23x2013%3B24.%20Available%20from%3A%20%3Ca%20href%3D%27https%3A%5C%2F%5C%2Fwww.degruyter.com%5C%2Fdocument%5C%2Fdoi%5C%2F10.1515%5C%2Fmedgen-2022-2145%5C%2Fhtml%27%3Ehttps%3A%5C%2F%5C%2Fwww.degruyter.com%5C%2Fdocument%5C%2Fdoi%5C%2F10.1515%5C%2Fmedgen-2022-2145%5C%2Fhtml%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%20%20%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Developmental%20and%20epileptic%20encephalopathies%20%5Cu2013%20therapeutic%20consequences%20of%20genetic%20testing%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Steffen%22%2C%22lastName%22%3A%22Syrbe%22%7D%5D%2C%22abstractNote%22%3A%22Developmental%20and%20epileptic%20encephalopathies%20comprise%20a%20heterogeneous%20group%20of%20monogenic%20neurodevelopmental%20disorders%20characterized%20by%20early-onset%20seizures%2C%20marked%20epileptic%20activity%20and%20abnormal%20neurocognitive%20development.%20The%20identification%20of%20an%20increasing%20number%20of%20underlying%20genetic%20alterations%20and%20their%20pathophysiological%20roles%20in%20cellular%20signaling%20drives%20the%20way%20toward%20novel%20precision%20therapies.%20The%20implementation%20of%20novel%20treatments%20that%20target%20the%20underlying%20mechanisms%20gives%20hope%20for%20disease%20modification%20that%20will%20improve%20not%20only%20the%20seizure%20burden%20but%20also%20the%20neurodevelopmental%20outcome%20of%20affected%20children.%20So%20far%2C%20beneficial%20effects%20are%20mostly%20reported%20in%20individual%20trials%20and%20small%20numbers%20of%20patients.%20There%20is%20a%20need%20for%20international%20collaborative%20studies%20to%20define%20the%20natural%20history%20and%20relevant%20outcome%20measures%20and%20to%20test%20novel%20pharmacological%20approaches.%22%2C%22date%22%3A%222022-10-31%22%2C%22language%22%3A%22en%22%2C%22DOI%22%3A%2210.1515%5C%2Fmedgen-2022-2145%22%2C%22ISSN%22%3A%221863-5490%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fwww.degruyter.com%5C%2Fdocument%5C%2Fdoi%5C%2F10.1515%5C%2Fmedgen-2022-2145%5C%2Fhtml%22%2C%22collections%22%3A%5B%22E8U5N6TS%22%5D%2C%22dateModified%22%3A%222023-03-08T07%3A02%3A05Z%22%7D%7D%5D%7D
1.
Syrbe S. Developmental and epileptic encephalopathies – therapeutic consequences of genetic testing. Medizinische Genetik [Internet]. 2022 Oct 31 [cited 2023 Mar 8];34(3):215–24. Available from: https://www.degruyter.com/document/doi/10.1515/medgen-2022-2145/html
Spanish 
English