학술논문
A Novel Disease Gene for Brugada Syndrome
Document Type
Article
Author
Source
Circulation: Arrhythmia and Electrophysiology; December 2012, Vol. 5 Issue: 6 p1098-1107, 10p
Subject
Language
ISSN
19413149
Abstract
Mutations in genes including SCN5Aencoding the -subunit of the cardiac sodium channel (hNav1.5) cause Brugada syndrome via altered function of cardiac ion channels, but more than two-thirds of Brugada syndrome remains pathogenetically elusive. T-tubules and sarcoplasmic reticulum are essential in excitation of cardiomyocytes, and sarcolemmal membrane-associated protein (SLMAP) is a protein of unknown function localizing at T-tubules and sarcoplasmic reticulum.