Autosomal dominant SCN8A mutation with an unusually mild phenotype

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

Krishna R. Veeramah, Janelle E. O’Brien, Miriam H. Meisler et al. · The American Journal of Human Genetics · 2012 · 439 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

The phenotypic spectrum of <i>SCN8A</i> encephalopathy

Jan Larsen, Gemma L. Carvill, Elena Gardella et al. · Neurology · 2015 · 285 citations · Full text

Medicine, Genetics, Neurology +17

Benign infantile seizures and paroxysmal dyskinesia caused by an <i>SCN8A</i> mutation

Elena Gardella, Felicitas Becker, Rikke S. Møller et al. · Annals of Neurology · 2015 · 190 citations

Life Sciences, Genetics, Neurology +17

De novo gain-of-function and loss-of-function mutations of <i>SCN8A</i> in patients with intellectual disabilities and epilepsy

Maxime G. Blanchard, Marjolein H. Willemsen, Jaclyn B Walker et al. · Journal of Medical Genetics · 2015 · 143 citations · Full text

Medicine, Genetics, Molecular Genetics +17