Partial loss‐of‐function of sodium channel SCN8A in familial isolated myoclonus

Variants in the neuronal sodium channel gene SCN8A have been implicated in several neurological disorders. Early infantile epileptic encephalopathy type 13 results from de novo gain‐of‐function mutations that alter the biophysical properties of the channel. Complete loss‐of‐function variants of SCN8...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Wagnon, Jacy L., Mencacci, Niccolò E., Barker, Bryan S., Wengert, Eric R., Bhatia, Kailash P., Balint, Bettina, Carecchio, Miryam, Wood, Nicholas W., Patel, Manoj K., Meisler, Miriam H.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2018
Assuntos:
Brief Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6032947/
https://ncbi.nlm.nih.gov/pubmed/29726066
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23547
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