Cargando...

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...

Descrición completa

Gardado en:
Detalles Bibliográficos
Publicado en: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: John Wiley and Sons Inc. 2018
Assuntos:
Acceso en liña: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
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!