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Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy
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Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy
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Journal Article
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy
2012
Overview
Samuel Berkovic and colleagues report the identification of missense mutations in
KCNT1
, which encodes a sodium-gated potassium channel, that cause severe autosomal dominant nocturnal frontal lobe epilepsy.
We performed genomic mapping of a family with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) and intellectual and psychiatric problems, identifying a disease-associated region on chromosome 9q34.3. Whole-exome sequencing identified a mutation in
KCNT1
, encoding a sodium-gated potassium channel subunit.
KCNT1
mutations were identified in two additional families and a sporadic case with severe ADNFLE and psychiatric features. These findings implicate the sodium-gated potassium channel complex in ADNFLE and, more broadly, in the pathogenesis of focal epilepsies.
Publisher
Nature Publishing Group US,Nature Publishing Group
Subject
/ Age
/ Animal Genetics and Genomics
/ Biological and medical sciences
/ Cell membranes. Ionic channels. Membrane pores
/ Cell structures and functions
/ Councils
/ Epilepsy
/ Epilepsy, Frontal Lobe - genetics
/ Exome
/ Fundamental and applied biological sciences. Psychology
/ Genetics of eukaryotes. Biological and molecular evolution
/ Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy
/ Humans
/ Intermediate-Conductance Calcium-Activated Potassium Channels - genetics
/ Kinases
/ Molecular and cellular biology
/ Mutation
/ Mutation, Missense - genetics
/ Nervous system (semeiology, syndromes)
/ Pedigree
/ Proteins
/ Sodium
