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Article

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

Nature genetics - 1 Jan 1998

Singh N A, Charlier C, Stauffer D, DuPont B R, Leach R J, Melis R, Ronen G M, Bjerre I, Quattlebaum T, Murphy J V, McHarg M L, Gagnon D, Rosales T O, Peiffer A, Anderson V E, Leppert M

Abstract excerpt

Idiopathic generalized epilepsies account for about 40% of epilepsy up to age 40 and commonly have a genetic basis. One type is benign familial neonatal convulsions (BFNC), a dominantly inherited disorder of newborns. We have identified a sub-microscopic deletion of chromosome 20q13.3 that co-segregates with seizures in a BFNC family. Characterization of cDNAs spanning the deleted region identified one encoding a...

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Identifiers

PMID: 9425895
DOI: 10.1038/ng0198-25

Genes

KCNQ2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Related research

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A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.PMID 9425895Read ↗

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

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

A Potassium Channel Mutation in Neonatal Human EpilepsySemantic proximity Read ↗

Complete loss of the cytoplasmic carboxyl terminus of the KCNQ2 potassium channel: a novel mutation in a large Czech pedigree with benign neonatal convulsions or other epileptic phenotypes.Semantic proximity Read ↗

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

The first Korean case of KCNQ2 mutation in a family with benign familial neonatal convulsions.Semantic proximity Read ↗

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

Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures.Semantic proximity Read ↗

A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions.Semantic proximity Read ↗

Functional analysis of novel KCNQ2 mutations found in patients with Benign Familial Neonatal Convulsions.Semantic proximity Read ↗

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

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

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