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

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...

Full description

Bibliographic Details
Main Authors: Mark Estacion, Janelle E. O'Brien, Allison Conravey, Michael F. Hammer, Stephen G. Waxman, Sulayman D. Dib-Hajj, Miriam H. Meisler
Format: Article
Language:English
Published: Elsevier 2014-09-01
Series:Neurobiology of Disease
Subjects:
Epilepsy
Sodium channel
De novo mutation
Epileptic encephalopathy
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996114001351

Similar Items

Similar Items