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Article

Identification of Genetic Alterations, as Causative Genetic Defects in Long QT Syndrome, Using Next Generation Sequencing Technology.

PloS one - 1 Jan 2014

Campuzano Oscar, Sarquella-Brugada Georgia, Mademont-Soler Irene, Allegue Catarina, Cesar Sergi, Ferrer-Costa Carles, Coll Monica, Mates Jesus, Iglesias Anna, Brugada Josep, Brugada Ramon

Abstract excerpt

BACKGROUND: Long QT Syndrome is an inherited channelopathy leading to sudden cardiac death due to ventricular arrhythmias. Despite that several genes have been associated with the disease, nearly 20% of cases remain without an identified genetic cause. Other genetic alterations such as copy number variations have been recently related to Long QT Syndrome. Our aim was to take advantage of current genetic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 25494010
DOI: 10.1371/journal.pone.0114894
PMCID: PMC4262446

Genes

KCNQ1
TTN

Provenance

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