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Article

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

Brain : a journal of neurology - 1 Dec 2003

Singh Nanda A, Westenskow Peter, Charlier Carole, Pappas Chris, Leslie Jonathan, Dillon Jessica, Anderson V Elving, Sanguinetti Michael C, Leppert Mark F

Abstract excerpt

Benign familial neonatal convulsions (BFNC) is a rare autosomal dominant generalized epilepsy of the newborn infant. Seizures occur repeatedly in the first days of life and remit by approximately 4 months of age. Previously our laboratory cloned two novel potassium channel genes, KCNQ2 and KCNQ3, and showed that they are mutated in patients with BFNC. In this report, we characterize the breakpoints of a...

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Source

Identifiers

PMID: 14534157
DOI: 10.1093/brain/awg286

Genes

KCNQ2
KCNQ3

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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KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum.PMID 14534157Read ↗

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

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

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