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Article

Long-QT founder variant T309I-Kv7.1 with dominant negative pattern may predispose delayed afterdepolarizations under β-adrenergic stimulation.

Scientific reports - 11 Feb 2021

Synková Iva, Bébarová Markéta, Andršová Irena, Chmelikova Larisa, Švecová Olga, Hošek Jan, Pásek Michal, Vít Pavel, Valášková Iveta, Gaillyová Renata, Navrátil Rostislav, Novotný Tomáš

Abstract excerpt

The variant c.926C > T (p.T309I) in KCNQ1 gene was identified in 10 putatively unrelated Czech families with long QT syndrome (LQTS). Mutation carriers (24 heterozygous individuals) were more symptomatic compared to their non-affected relatives (17 individuals). The carriers showed a mild LQTS phenotype including a longer QTc interval at rest (466 ± 24 ms vs. 418 ± 20 ms) and after exercise (508 ± 32 ms vs....

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Identifiers

PMID: 33574382
DOI: 10.1038/s41598-021-81670-1
PMCID: PMC7878757

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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