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Article

The variable phenotypes of KCNQ-related epilepsy.

Epilepsia - 1 Sept 2014

Allen Nicholas M, Mannion Maria, Conroy Judith, Lynch Sally A, Shahwan Amre, Lynch Bryan, King Mary D

Abstract excerpt

Mutations in KCNQ2 and KCNQ3 were originally described in infants with benign familial neonatal seizures (BFNS). Recently, KCNQ2 mutations have also been shown to cause epileptic encephalopathy. This report describes three infants carrying abnormalities of KCNQ2 and one infant with a KCNQ3 mutation. The different KCNQ2 abnormalities led to different phenotypes and included a novel intragenic duplication,...

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Source

Identifiers

PMID: 25052858
DOI: 10.1111/epi.12715

Genes

KCNQ2
KCNQ3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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