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Article

A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability.

Epilepsia - 1 Feb 2015

Miceli Francesco, Striano Pasquale, Soldovieri Maria Virginia, Fontana Antonina, Nardello Rosaria, Robbiano Angela, Bellini Giulia, Elia Maurizio, Zara Federico, Taglialatela Maurizio, Mangano Salvatore

Abstract excerpt

Mutations in the KCNQ2 gene encoding for voltage-gated potassium channel subunits have been found in patients affected with early onset epilepsies with wide phenotypic heterogeneity, ranging from benign familial neonatal seizures (BFNS) to epileptic encephalopathy with cognitive impairment, drug resistance, and characteristic electroencephalography (EEG) and neuroradiologic features. By contrast, only few KCNQ3...

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Source

Identifiers

PMID: 25524373
DOI: 10.1111/epi.12887

Genes

KCNQ3
KCNQ2

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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