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

doi:10.1007/pl00008713

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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...

Topics

Alternative Splicing
Amino Acid Sequence
Base Sequence
DNA Mutational Analysis
Exons
Family Health
Genes
Genetic Variation
Humans
Introns
KCNQ2 Potassium Channel
Mutation
Polymorphism, Genetic
Polymorphism, Single-Stranded Conformational
Potassium Channels
Potassium Channels, Voltage-Gated
Seizures

Source

Open in PubMed

Identifiers

PMID: 10323247
DOI: 10.1007/pl00008713

Genes

KCNQ2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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