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

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 (2011). Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6). European Heart Journal, 32(9), pp. 1077-88. Oxford: Oxford University Press 10.1093/eurheartj/ehr076

[img]
Preview
Text
ehr076.pdf - Published Version
Available under License Publisher holds Copyright.

Download (677kB) | Preview

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.

Item Type:

Journal Article (Further Contribution)

Division/Institute:

04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > DBMR Forschung Mu35 > Forschungsgruppe Ionenkanalkrankheiten
04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > DBMR Forschung Mu35 > Forschungsgruppe Ionenkanalkrankheiten

UniBE Contributor:

Rougier, Jean-Sébastien; Albesa, Maxime and Abriel, Hugues

ISSN:

0195-668X

Publisher:

Oxford University Press

Funders:

[4] Swiss National Science Foundation

Projects:

[12] In vivo relevance of the PY and PDZ-domain binding motifs of the cardiac sodium channel Nav1.5 Official URL

Language:

English

Submitter:

Factscience Import

Date Deposited:

04 Oct 2013 14:20

Last Modified:

27 Apr 2018 10:07

Publisher DOI:

10.1093/eurheartj/ehr076

PubMed ID:

21383000

Web of Science ID:

000290315900013

BORIS DOI:

10.7892/boris.6857

URI:

https://boris.unibe.ch/id/eprint/6857 (FactScience: 211896)

Actions (login required)

Edit item Edit item
Provide Feedback