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Article

Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations.

Journal of human genetics - 1 Feb 2017

Hortigüela Montesclaros, Fernández-Marmiesse Ana, Cantarín Verónica, Gouveia Sofía, García-Peñas Juan J, Fons Carmen, Armstrong Judith, Barrios Desirée, Díaz-Flores Felícitas, Tirado Pilar, Couce María L, Gutiérrez-Solana Luis G

Abstract excerpt

The KCNQ2 gene codifies a subunit of the voltage-gated potassium M channel underlying the neuronal M-current. Classically, mutations in this gene have been associated with benign familial neonatal seizures, however, in recent years KCNQ2 mutations have been reported associated to early-onset epileptic encephalopathy. In this work, detailed familiar, clinical and genetic data were collected for 13 KCNQ2-positive...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27535030
DOI: 10.1038/jhg.2016.104

Genes

KCNQ2

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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