A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy

Rare de novo mutations of sodium channels are thought to be an important cause of sporadic epilepsy. The well established role of de novo mutations of sodium channel SCN1A in Dravet Syndrome supports this view, but the etiology of many cases of epileptic encephalopathy remains unknown. We sought to...

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Autors principals: Estacion, Mark, O’Brien, Janelle E., Conravey, Allison, Hammer, Michael F., Waxman, Stephen G., Dib-Hajj, Sulayman D., Meisler, Miriam H.
Format: Artigo
Idioma:Inglês
Publicat: 2014
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4124819/
https://ncbi.nlm.nih.gov/pubmed/24874546
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nbd.2014.05.017
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