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Article

KCNQ2, the first gene found to be mutated in human generalized idiopathic epilepsy.

Pathologie-biologie - 1 Nov 1998

Steinlein O K, Jentsch T J

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Share to Chromosomes, Human, Pair 20
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 9885816

Genes

KCNQ2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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KCNQ2, the first gene found to be mutated in human generalized idiopathic epilepsy.PMID 9885816Read ↗

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

[KCNQ2 gene mutations and neonatal epilepsy].Semantic proximity Read ↗

Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy.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 ↗

Novel KCNQ2 missense variant expands the genotype spectrum of DEE7.Semantic proximity Read ↗

Biallelic variants of KCNQ2 in early infantile developmental and epileptic encephalopathy.Semantic proximity Read ↗

KCNQ2 related-epilepsy: Report of nine cases and novel loss-of-function missense variantsSemantic proximity Read ↗

Clinical and genetic analysis of 23 Chinese children with epilepsy associated with KCNQ2 gene mutations.Semantic proximity Read ↗

KCNQ2 Epileptic Encephalopathy in Early Infancy.Semantic 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 ↗

Progressive myoclonus epilepsy caused by a gain-of-function KCNA2 mutationSemantic proximity Read ↗

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants.Semantic proximity Read ↗

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