2017 AHA/ACC/HRS guideline for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: a report of the American College …

SM Al-Khatib, WG Stevenson, MJ Ackerman… - Journal of the American …, 2018 - jacc.org
The recommendations listed in this clinical practice guideline are, whenever possible,
evidence-based. An initial extensive evidence review, which included literature derived from …

J-Wave syndromes expert consensus conference report: emerging concepts and gaps in knowledge

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 …

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

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 …

Genetics of sudden cardiac death

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 …

KATP Channels in the Cardiovascular System

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 …

Gene variant effects across sodium channelopathies predict function and guide precision therapy

A Brunklaus, T Feng, T Brünger, E Perez-Palma… - Brain, 2022 - academic.oup.com
Pathogenic variants in the voltage-gated sodium channel gene family lead to early onset
epilepsies, neurodevelopmental disorders, skeletal muscle channelopathies, peripheral …

Impact of genetics on the clinical management of channelopathies

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 …

Brugada syndrome and reduced right ventricular outflow tract conduction reserve: a final common pathway?

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 …

Mutations in SCN10A Are Responsible for a Large Fraction of Cases of Brugada Syndrome

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 …

Genotype-Phenotype Correlation of SCN5A Mutation for the Clinical and Electrocardiographic Characteristics of Probands With Brugada Syndrome: A Japanese …

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 …