Article
Relationship between sodium channel function and clinical phenotype in SCN5A variants associated with Brugada syndrome.
Human mutation - 1 Dec 2020
Pearman Charles M, Denham Nathan C, Mills Robert W, Ding Wern Y, Modi Simon S, Hall Mark C S, Todd Derick M, Mahida Saagar
Abstract excerpt
The identification of a pathogenic SCN5A variant confers an increased risk of conduction defects and ventricular arrhythmias (VA) in Brugada syndrome (BrS). However, specific aspects of sodium channel function that influence clinical phenotype have not been defined. A systematic literature search identified SCN5A variants associated with BrS. Sodium current (INa ) functional parameters (peak current, decay,...
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