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Article

Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6).

European heart journal - 1 May 2011

Templin Christian, Ghadri Jelena-Rima, Rougier Jean-Sébastien, Baumer Alessandra, Kaplan Vladimir, Albesa Maxime, Sticht Heinrich, Rauch Anita, Puleo Colleen, Hu Dan, Barajas-Martinez Héctor, Antzelevitch Charles, Lüscher Thomas F, Abriel Hugues, Duru Firat

Abstract excerpt

AIMS: Short QT syndrome (SQTS) is a genetically determined ion-channel disorder, which may cause malignant tachyarrhythmias and sudden cardiac death. Thus far, mutations in five different genes encoding potassium and calcium channel subunits have been reported. We present, for the first time, a novel loss-of-function mutation coding for an L-type calcium channel subunit. METHODS AND RESULTS: The electrocardiogram...

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Identifiers

PMID: 21383000
DOI: 10.1093/eurheartj/ehr076
PMCID: PMC3086900

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Source receipt: pubmed, retrieved 7 Sept 2026.

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