Article
Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy.
Epilepsy research - 1 Nov 2014
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
Abstract excerpt
OBJECTIVE: Recently, de novo SCN8A missense mutations have been identified as a rare dominant cause of epileptic encephalopathies (EIEE13). 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 epileptic encephalopathy, and functional characterization of the mutant protein. DESIGN: Whole exome...
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