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Article

Biophysical characteristics of a new mutation on the KCNQ1 potassium channel (L251P) causing long QT syndrome.

Canadian journal of physiology and pharmacology - 1 Feb 2003

Deschênes Dominic, Acharfi Said, Pouliot Valerie, Hegele Robert, Krahn Andrew, Daleau Pascal, Chahine Mohamed

Abstract excerpt

The congenital long QT syndrome (LQTS) is a hereditary cardiac disease characterized by prolonged ventricular repolarization, syncope, and sudden death. Mutations causing LQTS have been identified in various genes that encode for ionic channels or their regulatory subunits. Several of these mutations have been reported on the KCNQ1 gene encoding for a potassium channel or its regulatory subunit (KCNE1). In this...

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PMID: 12710526
DOI: 10.1139/y02-162

Genes

KCNQ1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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