Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy

OBJECTIVE: Recently, de novo SCN8A missense mutations have been identified as a rare dominant cause of epileptic encephalopathies. Functional studies on the first described case demonstrated gain-of-function effects of the mutation. We describe a novel de novo mutation of SCN8A in a patient with epi...

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Publicado en:Epilepsy Res
Autores principales: de Kovel, Carolien G.F., Meisler, Miriam H., Brilstra, Eva H., van Berkestijn, Frederique M.C., van ‘t Slot, Ruben, van Lieshout, Stef, Nijman, Isaac J, O'Brien, Janelle E., Hammer, Michael F., Estacion, Mark, Waxman, Stephen G., Dib-Hajj, Sulayman D., Koeleman, Bobby P.C.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2014
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4490185/
https://ncbi.nlm.nih.gov/pubmed/25239001
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.eplepsyres.2014.08.020
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