Article
Reduced current density, partially rescued by mexiletine, and depolarizing shift in activation of SCN5A W374G channels as a cause of severe form of Brugada syndrome.
Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc - 1 May 2021
Nakajima Tadashi, Dharmawan Tommy, Kawabata-Iwakawa Reika, Tamura Shuntaro, Hasegawa Hiroshi, Kobari Takashi, Ota Masaki, Tange Shoichi, Nishiyama Masahiko, Kaneko Yoshiaki, Kurabayashi Masahiko
Abstract excerpt
BACKGROUND: SCN5A-related Brugada syndrome (BrS) can be caused by multiple mechanisms including trafficking defects and altered channel gating properties. Most SCN5A mutations at pore region cause trafficking defects, and some of them can be rescued by mexiletine (MEX). OBJECTIVE: We recently encountered symptomatic siblings with BrS and sought to identify a responsible mutation and reveal its biophysical...
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