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Article

Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits.

The Journal of neuroscience : the official journal of the Society for Neuroscience - 4 Mar 2015

Miceli Francesco, Soldovieri Maria Virginia, Ambrosino Paolo, De Maria Michela, Migliore Michele, Migliore Rosanna, Taglialatela Maurizio

Abstract excerpt

Mutations in Kv7.2 (KCNQ2) and Kv7.3 (KCNQ3) genes, encoding for voltage-gated K(+) channel subunits underlying the neuronal M-current, have been associated with a wide spectrum of early-onset epileptic disorders ranging from benign familial neonatal seizures to severe epileptic encephalopathies. The aim of the present work has been to investigate the molecular mechanisms of channel dysfunction caused by...

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Source

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Identifiers

PMID: 25740509
DOI: 10.1523/JNEUROSCI.4423-14.2015
PMCID: PMC6605567

Genes

KCNQ2
KCNQ3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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