Expression defect of the rare variant/Brugada mutation R1512W depends upon the SCN5A splice variant background and can be rescued by mexiletine and the common polymorphism H558R-MedSci.cn

Expression defect of the rare variant/Brugada mutation R1512W depends upon the SCN5A splice variant background and can be rescued by mexiletine and the common polymorphism H558R

Hu, RM; Song, EJ; Tester, DJ; Deschenes, I; Ackerman, MJ; Makielski, JC; Tan, BH

Tan, BH (corresponding author), Ohio State Univ, Dept Physiol & Cell Biol, Dorothy M Davis Heart & Lung Res Inst, Frick Ctr Heart Failure & Arrhythmia, Rm 5028,333 W 10th Ave,Graves Hall, Columbus, OH 43210 USA.

CHANNELS, 2021; 15 (1): 253

Abstract

Background: Mutations in SCN5A that decrease Na current underlie arrhythmia syndromes such as the Brugada syndrome (BrS). SCN5A in humans has two spli......

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Expression defect of the rare variant/Brugada mutation R1512W depends upon the SCN5A splice variant background and can be rescued by mexiletine and the common polymorphism H558R

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