Mutations inKCNT1cause a spectrum of focal epilepsies

KCNT1gain of function in 2 epilepsy phenotypes is reversed by quinidine

(2014) Carol J. Milligan et al.   ANNALS OF NEUROLOGY

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

(2014) H. C. Martin et al.   HUMAN MOLECULAR GENETICS

Disease-Targeted Sequencing of Ion Channel Genes identifies de novo mutations in Patients with Non-Familial Brugada Syndrome

(2014) Jyh-Ming Jimmy Juang et al.   Scientific Reports

Human Slack Potassium Channel Mutations Increase Positive Cooperativity between Individual Channels

(2014) Grace E. Kim et al.   Cell Reports

Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum

(2013) Amy McTague et al.   BRAIN

Coexistence of epilepsy and Brugada syndrome in a family with SCN5A mutation

(2013) Pasquale Parisi et al.   EPILEPSY RESEARCH

A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy

(2013) Atsushi Ishii et al.   GENE

Identification of a Novel de Novo p.Phe932Ile KCNT1 Mutation in a Patient With Leukoencephalopathy and Severe Epilepsy

(2013) Adeline Vanderver et al.   PEDIATRIC NEUROLOGY

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

(2012) Sarah E Heron et al.   NATURE GENETICS

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

(2012) Giulia Barcia et al.   NATURE GENETICS

Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability

(2008) Christopher P. Derry et al.   EPILEPSIA

Two cases of sudden unexpected death in epilepsy in a GEFS+ family with an SCN1A mutation

(2008) Neeti Hindocha et al.   EPILEPSIA

New SCN5A mutation in a SUDEP victim with idiopathic epilepsy

(2008) Dag Aurlien et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY