Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach

De novo gain-of-function and loss-of-function mutations ofSCN8Ain patients with intellectual disabilities and epilepsy

(2015) Maxime G Blanchard et al.   JOURNAL OF MEDICAL GENETICS

The phenotypic spectrum of SCN8A encephalopathy

(2015) J. Larsen et al.   NEUROLOGY

Early onset epileptic encephalopathy caused by de novoSCN8Amutations

(2014) Chihiro Ohba et al.   EPILEPSIA

Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy

(2014) Carolien G.F. de Kovel et al.   EPILEPSY RESEARCH

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

(2014) Mark Estacion et al.   NEUROBIOLOGY OF DISEASE

De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP

(2012) Krishna R. Veeramah et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Sodium channels and the neurobiology of epilepsy

(2012) Megan Oliva et al.   EPILEPSIA