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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Bibliografische gegevens
Gepubliceerd in:Brain
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Oxford University Press 2019
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Original Articles
Online toegang: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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