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Article

Constitutive opening of the Kv7.2 pore activation gate causes KCNQ2-developmental encephalopathy.

Proceedings of the National Academy of Sciences of the United States of America - 3 Dec 2024

Nappi Mario, Alberini Giulio, Berselli Alessandro, Roscioni Agnese, Soldovieri Maria Virginia, Servettini Ilenio, Barrese Vincenzo, Weckhuysen Sarah, Chiu Ting-Gee Annie, Scheffer Ingrid E, Benfenati Fabio, Maragliano Luca, Miceli Francesco, Taglialatela Maurizio

Abstract excerpt

Pathogenic variants in KCNQ2 encoding Kv7.2 voltage-gated potassium channel subunits cause developmental encephalopathies (KCNQ2-encephalopathies), both with and without epilepsy. We herein describe the clinical, in vitro, and in silico features of two encephalopathy-causing variants (A317T, L318V) in Kv7.2 affecting two consecutive residues in the S6 activation gate that undergoes large structural rearrangements...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 39602259
DOI: 10.1073/pnas.2412388121
PMCID: PMC11626135

Genes

KCNQ2
KCNQ3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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