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Article

Variable clinical expression in patients with mosaicism for KCNQ2 mutations.

American journal of medical genetics. Part A - 1 Oct 2015

Milh Mathieu, Lacoste Caroline, Cacciagli Pierre, Abidi Affef, Sutera-Sardo Julie, Tzelepis Ilias, Colin Estelle, Badens Catherine, Afenjar Alexandra, Coeslier Anne Dieux, Dailland Thomas, Lesca Gaetan, Philip Nicole, Villard Laurent

Abstract excerpt

Mutations in the KCNQ2 gene, encoding a potassium channel subunit, were reported in patients presenting epileptic phenotypes of varying severity. Patients affected by benign familial neonatal epilepsy (BFNE) are at the milder end of the spectrum, they are affected by early onset epilepsy but thei...

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Share to Epilepsy, Benign Neonatal
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25959266
DOI: 10.1002/ajmg.a.37152

Genes

KCNQ2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25959266-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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