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

Mark Estacion, Janelle E. O'Brien, Allison Conravey, Michael F. Hammer, Stephen G. Waxman, Sulayman D. Dib-Hajj, Miriam H. Meisler

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Neuroscience

Biochemistry, Genetics and Molecular Biology