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Article

Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome.

Journal of cardiovascular electrophysiology - 1 Nov 2003

Zareba Wojciech, Moss Arthur J, Sheu Gloria, Kaufman Elizabeth S, Priori Silvia, Vincent G Michael, Towbin Jeffrey A, Benhorin Jesaia, Schwartz Peter J, Napolitano Carlo, Hall W Jackson, Keating Mark T, Qi Ming, Robinson Jennifer L, Andrews Mark L

Abstract excerpt

INTRODUCTION: Recent data showed that long QT syndrome (LQTS) patients with mutations in the pore region of the HERG (LQT2) gene have significantly higher risk of cardiac events than subjects with mutations in the non-pore region. The aim of this study was to determine whether there is an association between the location of mutations in the KCNQ1 gene and cardiac events in LQT1 patients. METHODS AND RESULTS: The...

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Source

Identifiers

PMID: 14678125
DOI: 10.1046/j.1540-8167.2003.03177.x

Genes

KCNQ1

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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