C-terminal long-QT type 1 R562S-Kv7.1 variant, the first variant in helix C impairing β-adrenergic response of the slow delayed rectifier K+ channel.

doi:10.1093/europace/euag156

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Article

C-terminal long-QT type 1 R562S-Kv7.1 variant, the first variant in helix C impairing β-adrenergic response of the slow delayed rectifier K+ channel.

Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology - 3 Jul 2026

Král Martin, Švecová Olga, Kula Roman, Kadášová Nina, Lněnička Jindřich, Synková Iva, Traj Dominika, Chmelikova Larisa, Pásek Michal, Hošek Jan, Radaszkiewicz Katarzyna Anna, Andršová Irena, Vít Pavel, Berka Karel, Novotný Tomáš, Bébarová Markéta

Abstract excerpt

AIMS: Kv7.1 variants, associated with long QT syndrome type 1 (LQT1) and altering the function of the slow delayed rectifier K+ (IKs) channel, may result in arrhythmias, especially during exercise. This study focused on complex analysis of the R562S-Kv7.1 variant located in helix C of the Kv7.1 C terminus, which was identified in four putatively unrelated families in the Czech Republic. METHODS AND RESULTS: The...

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PMID: 42314170
DOI: 10.1093/europace/euag156
PMCID: PMC13347974

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