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Article

Genotype-phenotype correlation of 139 p.Gln530Ter-KCNQ1 patients with inherited long QT syndrome.

Heart rhythm - 1 Jul 2026

Savelev Aleksei A, Larsson Nina, Dahlberg Pia, Christensen Alex H, Bugge Cecilie, Bulatovic Ivana, Gardovic Teodora, Svensson Anneli, Ljungström Erik, Markljung Minna, Ringborn Michael, Lundin Catarina, Goldenberg Ilan, McNitt Scott, Polonsky Bronislava, Graff Claus, Zareba Wojciech, Haugaa Kristina H, Platonov Pyotr G

Abstract excerpt

BACKGROUND: Variants in the KCNQ1 underlie type 1 long QT syndrome. The clinical manifestations are influenced by the specific KCNQ1 pathogenic variant. OBJECTIVE: We aimed to describe the phenotype in patients found to possess the p.Gln530Ter-KCNQ1 pathogenic variant common in Scandinavian patients with long QT syndrome. METHODS: Clinical characteristics of p.Gln530Ter-KCNQ1 variant-positive patients from 6...

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Identifiers

PMID: 41881367
DOI: 10.1016/j.hrthm.2026.03.1911

Genes

KCNQ1

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

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