Article
Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort.
PloS one - 1 Jan 2015
Selga Elisabet, Campuzano Oscar, Pinsach-Abuin Mel Lina, Pérez-Serra Alexandra, Mademont-Soler Irene, Riuró Helena, Picó Ferran, Coll Mònica, Iglesias Anna, Pagans Sara, Sarquella-Brugada Georgia, Berne Paola, Benito Begoña, Brugada Josep, Porres José M, López Zea Matilde, Castro-Urda Víctor, Fernández-Lozano Ignacio, Brugada Ramon
Abstract excerpt
BACKGROUND: Brugada syndrome (BrS) is a rare genetic cardiac arrhythmia that can lead to sudden cardiac death in patients with a structurally normal heart. Genetic variations in SCN5A can be identified in approximately 20-25% of BrS cases. The aim of our work was to determine the spectrum and prevalence of genetic variations in a Spanish cohort diagnosed with BrS. METHODOLOGY/PRINCIPAL FINDINGS: We directly...
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