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Article

Screening for copy number variation in genes associated with the long QT syndrome: clinical relevance.

Journal of the American College of Cardiology - 4 Jan 2011

Barc Julien, Briec François, Schmitt Sébastien, Kyndt Florence, Le Cunff Martine, Baron Estelle, Vieyres Claude, Sacher Frédéric, Redon Richard, Le Caignec Cédric, Le Marec Hervé, Probst Vincent, Schott Jean-Jacques

Abstract excerpt

OBJECTIVES: The aim of this study was to investigate, in a set of 93 mutation-negative long QT syndrome (LQTS) probands, the frequency of copy number variants (CNVs) in LQTS genes. BACKGROUND: LQTS is an inherited cardiac arrhythmia characterized by a prolonged heart rate-corrected QT (QTc) interval associated with sudden cardiac death. Recent studies suggested the involvement of duplications or deletions in the...

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Source

Identifiers

PMID: 21185499
DOI: 10.1016/j.jacc.2010.08.621

Genes

KCNH2
KCNQ1
AKAP9
CAV3
KCNJ2
SNTA1

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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