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Article

Role of natural inter-individual variability in the different penetrance of congenital long QT syndromes (LQTS) types 1 and 2: an in silico approach.

Scientific reports - 29 Apr 2026

Casis Oscar, Echevarría Enrique, Echeazarra Leyre, Sáenz-Díez Beatriz, Gallego Mónica

Abstract excerpt

Congenital Long QT Syndrome types 1 and 2 (LQT1 and LQT2) are caused bymutations in the KCNQ1 and KCNH2 genes, responsible for the IKs and IKr currents, respectively. However, the penetrance of these mutations is highly variable, since some carriers remain asymptomatic, while others exhibit severe clinical manifestations. To elucidate how physiological variability in other cardiac ionic currents may influence the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42056480
DOI: 10.1038/s41598-026-51114-9
PMCID: PMC13315781

Genes

KCNH2
KCNQ1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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