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Article

A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family.

Nature genetics - 1 Jan 1998

Charlier C, Singh N A, Ryan S G, Lewis T B, Reus B E, Leach R J, Leppert M

Abstract excerpt

Epileptic disorders affect about 20-40 million people worldwide, and 40% of these are idiopathic generalized epilepsies (IGEs; ref. 1). Most of the IGEs that are inherited are complex, multigenic diseases. To address basic mechanisms for epilepsies, we have focused on one well-defined class of IGEs with an autosomal-dominant mode of inheritance: the benign familial neonatal convulsions (BFNC; refs 2,3). Genetic...

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Source

Identifiers

PMID: 9425900
DOI: 10.1038/ng0198-53

Genes

KCNQ3
KCNQ2
KCNQ1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family.PMID 9425900Read ↗

A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.Semantic proximity Read ↗

A Potassium Channel Mutation in Neonatal Human EpilepsySemantic proximity Read ↗

Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions.Semantic proximity Read ↗

KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum.Semantic proximity Read ↗

A novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed for 25 years.Semantic proximity Read ↗

A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions.Semantic proximity Read ↗

Functional Expression of Two KvLQT1-related Potassium Channels Responsible for an Inherited Idiopathic EpilepsySemantic proximity Read ↗

A KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish family.Semantic proximity Read ↗

Disruption of the epilepsy KCNQ2 gene results in neural hyperexcitability.Semantic proximity Read ↗

KCNQ2/KCNQ3 K+ channels and the molecular pathogenesis of epilepsy: implications for therapy.Semantic proximity Read ↗

Functional analysis of novel KCNQ2 and KCNQ3 gene variants found in a large pedigree with benign familial neonatal convulsions (BFNC).Semantic proximity Read ↗

A novel de novo heterozygous variant of the KCNQ2 gene: Contribution to early‑onset epileptic encephalopathy in a female infant.Semantic proximity Read ↗

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