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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Foilsithe in:Epilepsy Res
Main Authors: 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.
Formáid: Artigo
Teanga:Inglês
Foilsithe: 2014
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Article
Rochtain Ar Líne: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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