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Article

Functional assessment of compound mutations in the KCNQ1 and KCNH2 genes associated with long QT syndrome.

Heart rhythm - 1 Nov 2005

Grunnet Morten, Behr Elijah Raphael, Calloe Kirstine, Hofman-Bang Jacob, Till Jan, Christiansen Michael, McKenna William John, Olesen Søren-Peter, Schmitt Nicole

Abstract excerpt

BACKGROUND: Long QT syndrome (LQTS) is a cardiovascular disorder characterized by prolonged QTc time, syncope, or sudden death caused by torsades de pointes and ventricular fibrillation. We investigated the clinical and electrophysiologic phenotype of individual mutations and the compound mutations in a family in which different genotypes could be found. OBJECTIVES: The purpose of this study was to determine the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16253915
DOI: 10.1016/j.hrthm.2005.07.025

Genes

KCNH2
KCNQ1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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