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Article

A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression-burst enhances Kv7/M channel activity.

Epilepsia - 1 May 2016

Devaux Jérôme, Abidi Affef, Roubertie Agathe, Molinari Florence, Becq Hélène, Lacoste Caroline, Villard Laurent, Milh Mathieu, Aniksztejn Laurent

Abstract excerpt

Mutations in the KCNQ2 gene encoding the voltage-gated potassium channel subunit Kv7.2 cause early onset epileptic encephalopathy (EOEE). Most mutations have been shown to induce a loss of function or to affect the subcellular distribution of Kv7 channels in neurons. Herein, we investigated functional consequences and subcellular distribution of the p.V175L mutation of Kv7.2 (Kv7.2(V175L) ) found in a patient...

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Source

Identifiers

PMID: 27030113
DOI: 10.1111/epi.13366

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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