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Article

Benign familial neonatal convulsions caused by mutation in KCNQ3, exon 6: a European case.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 May 2013

Fister Petja, Soltirovska-Salamon Aneta, Debeljak Marusa, Paro-Panjan Darja

Abstract excerpt

Benign familial neonatal convulsions (BFNC) is a rare, clinically and genetically heterogenous epileptic disorder. Two voltage gated potassium genes, KCNQ2 and KCNQ3, have been identified as genes responsible for BFNC1 and BFNC2 respectively. While as many as 73 mutations of KCNQ2 have been described up to date, only 4 mutations in KCNQ3, 3 of them appearing in exon 5, have been identified. Mutation in exon 6 was...

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Source

Identifiers

PMID: 23146207
DOI: 10.1016/j.ejpn.2012.10.007

Genes

KCNQ3
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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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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