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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Brief Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6032947/
https://www.ncbi.nlm.nih.gov/pubmed/29726066
http://dx.doi.org/10.1002/humu.23547

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6032947/
https://www.ncbi.nlm.nih.gov/pubmed/29726066
http://dx.doi.org/10.1002/humu.23547

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