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Article

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

Human genetics - 1 Mar 1999

Biervert C, Steinlein O K

Abstract excerpt

Mutations in the voltage-gated potassium channel gene KCNQ2 on chromosome 20q13.3 are responsible for benign familial neonatal convulsions (BFNC), a rare monogenic idiopathic epilepsy. Here we report the determination of the detailed genomic structure of KCNQ2, and use of this information in mutational analysis. There are at least 18 exons, occupying more than 50 kb of genomic DNA. Several formerly unknown...

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Source

Identifiers

PMID: 10323247
DOI: 10.1007/pl00008713

Genes

KCNQ2

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions.PMID 10323247Read ↗

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