163 Genetic Modifiers in Carriers of the SCN5A E1784K Mutation with Variable Phenotypic Expression - Long QT3 / Brugada Syndrome Overlap Disease (original) (raw)

Heart, 2014

Abstract

ABSTRACT Long QT syndrome (LQTS) and Brugada syndrome (BrS) are inherited arrhythmia syndromes characterised by sudden death and highly variable penetrance. The E1784K mutation in SCN5A, which encodes the α-subunit of the cardiac sodium channel Nav1.5, is the most commonly identified SCN5A mutation in both conditions. It causes a LQTS/BrS overlap disease with variable phenotype. The aim of this project was to identify potential genetic modifiers that may influence the E1784K phenotypic expression in an international cohort of carriers of this mutation.

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