C Antzelevitch, GX Yan, MJ Ackerman, M Borggrefe… - Europace, 2017 - academic.oup.com
The J-wave syndromes (JWSs), consisting of the Brugada syndrome (BrS) and early repolarization syndrome (ERS), have captured the interest of the cardiology community over …
CR Bezzina, J Barc, Y Mizusawa, CA Remme… - Nature …, 2013 - nature.com
Brugada syndrome is a rare cardiac arrhythmia disorder, causally related to SCN5A mutations in around 20% of cases,,. Through a genome-wide association study of 312 …
CR Bezzina, N Lahrouchi, SG Priori - Circulation research, 2015 - Am Heart Assoc
Sudden cardiac death occurs in a broad spectrum of cardiac pathologies and is an important cause of mortality in the general population. Genetic studies conducted during the past 20 …
MN Foster, WA Coetzee - Physiological reviews, 2016 - journals.physiology.org
KATP channels are integral to the functions of many cells and tissues. The use of electrophysiological methods has allowed for a detailed characterization of KATP channels …
Pathogenic variants in the voltage-gated sodium channel gene family lead to early onset epilepsies, neurodevelopmental disorders, skeletal muscle channelopathies, peripheral …
PJ Schwartz, MJ Ackerman, AL George… - Journal of the American …, 2013 - jacc.org
There are few areas in cardiology in which the impact of genetics and genetic testing on clinical management has been as great as in cardiac channelopathies, arrhythmic disorders …
ER Behr, Y Ben-Haim, MJ Ackerman… - European heart …, 2021 - academic.oup.com
Brugada syndrome (BrS) was first described as a primary electrical disorder predisposing to the risk of sudden cardiac death and characterized by right precordial lead ST elevation …
D Hu, H Barajas-Martínez, R Pfeiffer, F Dezi… - Journal of the American …, 2014 - jacc.org
Background: BrS is an inherited sudden cardiac death syndrome. Less than 35% of BrS probands have genetically identified pathogenic variants. Recent evidence has implicated …
K Yamagata, M Horie, T Aiba, S Ogawa, Y Aizawa… - Circulation, 2017 - Am Heart Assoc
Background: The genotype-phenotype correlation of SCN5A mutations as a predictor of cardiac events in Brugada syndrome remains controversial. We aimed to establish a registry …