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Article

Functional effects of a KCNQ1 mutation associated with the long QT syndrome.

Cardiovascular research - 1 Jun 2006

Boulet Inge R, Raes Adam L, Ottschytsch Natacha, Snyders Dirk J

Abstract excerpt

OBJECTIVE: Long QT syndrome (LQTS) is an inherited disorder of ventricular repolarization caused by mutations in cardiac ion channel genes, including KCNQ1. In this study the electrophysiological properties of a LQTS-associated mutation in KCNQ1 (Q357R) were characterized. This mutation is located near the C-terminus of S6, a region that is important for the gate structure. METHODS AND RESULTS: Co-assembly of...

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Source

Identifiers

PMID: 16564513
DOI: 10.1016/j.cardiores.2006.02.006

Genes

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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