Benign infantile seizures and paroxysmal dyskinesia caused by anSCN8Amutation

The phenotypic spectrum of SCN8A encephalopathy

(2015) J. Larsen et al.   NEUROLOGY

Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy

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

Early onset epileptic encephalopathy caused by de novoSCN8Amutations

(2014) Chihiro Ohba et al.   EPILEPSIA

Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy

(2014) Jacy L. Wagnon et al.   HUMAN MOLECULAR GENETICS

Infantile Epileptic Encephalopathy, Transient Choreoathetotic Movements, and Hypersomnia due to a De Novo Missense Mutation in the SCN2A Gene

(2014) Alessandra Baumer et al.   NEUROPEDIATRICS

Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance

(2013) Federico Zara et al.   EPILEPSIA

Role of HERP and a HERP-related Protein in HRD1-dependent Protein Degradation at the Endoplasmic Reticulum

(2013) Chih-Hsiang Huang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

PRRT2-related disorders: further PKD and ICCA cases and review of the literature

(2013) Felicitas Becker et al.   JOURNAL OF NEUROLOGY

Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability

(2013) Janelle E. O'Brien et al.   Frontiers in Genetics

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

PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome

(2012) Sarah E. Heron et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

(2012) Johannes R. Lemke et al.   EPILEPSIA

PRRT2 Mutations are the major cause of benign familial infantile seizures

(2012) Julian Schubert et al.   HUMAN MUTATION

Voltage-gated sodium channels at 60: structure, function and pathophysiology

(2012) William A. Catterall   JOURNAL OF PHYSIOLOGY-LONDON

Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions

(2012) Hsien-Yang Lee et al.   Cell Reports

Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia

(2011) Wan-Jin Chen et al.   NATURE GENETICS

Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy

(2010) Yunxiang Liao et al.   BRAIN

Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1

(2008) A. Suls et al.   BRAIN