Relationship between sodium channel function and clinical phenotype in SCN5A variants associated with Brugada syndrome.

doi:10.1002/humu.24128

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...

Topics

Arrhythmias, Cardiac
Brugada Syndrome
Electrocardiography
Heart Conduction System
Humans
Mutation
NAV1.5 Voltage-Gated Sodium Channel
Phenotype

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