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Article

Biophysical characterization of KCNQ1 P320 mutations linked to long QT syndrome 1.

Journal of molecular and cellular cardiology - 1 Jan 2010

Thomas Dierk, Khalil Markus, Alter Markus, Schweizer Patrick A, Karle Christoph A, Wimmer Anna-Britt, Licka Manuela, Katus Hugo A, Koenen Michael, Ulmer Herbert E, Zehelein Jörg

Abstract excerpt

Hereditary long QT syndrome (LQTS) is a cardiovascular disorder characterized by prolongation of the QT interval on the surface ECG and a high risk for arrhythmia-related sudden death. Mutations in a cardiac voltage-gated potassium channel, KCNQ1, account for the most common form of LQTS, LQTS1. The objective of this study was the characterization of a novel KCNQ1 mutation linked to LQTS. Electrophysiological...

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Source

Identifiers

PMID: 19540844
DOI: 10.1016/j.yjmcc.2009.06.009

Genes

KCNQ1

Variants

Provenance

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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