Genetics: Mutations in potassium channel KCNT1 - A novel driver of epilepsy pathogenesis

Nature Reviews Neurology

Volumn 8, Issue 12, 2012, Pages 658-

  Kingwell, Katie ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

NICOTINIC RECEPTOR; POTASSIUM CHANNEL; POTASSIUM CHANNEL KCNT1; UNCLASSIFIED DRUG;

AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY; BRAIN DEVELOPMENT; EPILEPSY; EPILEPTOGENESIS; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HUMAN; KCNT1 GENE; MALIGNANT MIGRATING PARTIAL SEIZURE OF INFANCY; NONHUMAN; NOTE; POTASSIUM CURRENT; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FUNCTION;

EID: 84870800018     PISSN: 17594758     EISSN: 17594766     Source Type: Journal    
DOI: 10.1038/nrneurol.2012.229     Document Type: Note

References (2)

1. Heron, S. E. et al. Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. Nat. Genet. 44, 1188-1190 (20 12)
2. Barcia, G. et al. De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nat. Genet. 44, 1255-1259 (20 12)