Clinical study of 19 patients with SCN 8A ‐related epilepsy: Two modes of onset regarding EEG and seizures

Early mortality in SCN8A -related epilepsies

(2018) Katrine M. Johannesen et al.   EPILEPSY RESEARCH

Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus

(2018) Jacy L. Wagnon et al.   HUMAN MUTATION

Location: A surrogate for personalized treatment of sodium channelopathies

(2018) Katherine D. Holland et al.   ANNALS OF NEUROLOGY

ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology

(2017) Ingrid E. Scheffer et al.   EPILEPSIA

TheSCN1AMutation Database: Updating Information and Analysis of the Relationships among Genotype, Functional Alteration, and Phenotype

(2015) Heng Meng et al.   HUMAN MUTATION

The phenotypic spectrum of SCN8A encephalopathy

(2015) J. Larsen et al.   NEUROLOGY

Precision Medicine: SCN8A Encephalopathy Treated with Sodium Channel Blockers

(2015) Rikke S. Møller et al.   Neurotherapeutics

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

(2015) Ragna S. Boerma et al.   Neurotherapeutics

Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy

(2015) Jacy L. Wagnon et al.   Frontiers in Neurology

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2

(2013) Mathieu Milh et al.   Orphanet Journal of Rare Diseases

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

KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy

(2011) Sarah Weckhuysen et al.   ANNALS OF NEUROLOGY

The core Dravet syndrome phenotype

(2011) Charlotte Dravet   EPILEPSIA

Key clinical features to identify girls with CDKL5 mutations

(2008) Nadia Bahi-Buisson et al.   BRAIN