Prominent role of forebrain excitatory neurons in SCN8A encephalopathy

De novo mutations of the sodium channel gene SCN8A result in an epileptic encephalopathy with refractory seizures, developmental delay, and elevated risk of sudden death. p.Arg1872Trp is a recurrent de novo SCN8A mutation reported in 14 unrelated individuals with epileptic encephalopathy that includ...

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Publicado en:Brain
Autores principales: Bunton-Stasyshyn, Rosie K A, Wagnon, Jacy L, Wengert, Eric R, Barker, Bryan S, Faulkner, Alexa, Wagley, Pravin K, Bhatia, Kritika, Jones, Julie M, Maniaci, Marissa R, Parent, Jack M, Goodkin, Howard P, Patel, Manoj K, Meisler, Miriam H
Formato: Artigo
Lenguaje:Inglês
Publicado: Oxford University Press 2019
Materias:
Original Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6351781/
https://ncbi.nlm.nih.gov/pubmed/30601941
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awy324
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