Mechanisms of sudden unexpected death in epilepsy: the pathway to prevention

CA Massey, LP Sowers, BJ Dlouhy… - Nature Reviews …, 2014 - nature.com
Sudden unexpected death in epilepsy (SUDEP) is the leading cause of death in patients
with refractory epilepsy, with an estimated 35% lifetime risk in this patient population. There …

The genetic basis of long QT and short QT syndromes: a mutation update

PL Hedley, P Jørgensen, S Schlamowitz… - Human …, 2009 - Wiley Online Library
Long QT and short QT syndromes (LQTS and SQTS) are cardiac repolarization
abnormalities that are characterized by length perturbations of the QT interval as measured …

Fibrosis, connexin-43, and conduction abnormalities in the Brugada syndrome

K Nademanee, H Raju, SV De Noronha… - Journal of the American …, 2015 - jacc.org
Background: The right ventricular outflow tract (RVOT) is acknowledged to be responsible
for arrhythmogenesis in Brugada syndrome (BrS), but the pathophysiology remains …

Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death

E Burashnikov, R Pfeiffer, H Barajas-Martinez… - Heart rhythm, 2010 - Elsevier
BACKGROUND: L-type calcium channel (LTCC) mutations have been associated with
Brugada syndrome (BrS), short QT (SQT) syndrome, and Timothy syndrome (LQT8). Little is …

Efficacy of the porcine species in biomedical research

K Gutierrez, N Dicks, WG Glanzner, LB Agellon… - Frontiers in …, 2015 - frontiersin.org
Since domestication, pigs have been used extensively in agriculture and kept as companion
animals. More recently they have been used in biomedical research, given they share many …

[HTML][HTML] Worldwide prevalence of Brugada syndrome: a systematic review and meta-analysis

W Vutthikraivit, P Rattanawong… - Acta Cardiologica …, 2018 - ncbi.nlm.nih.gov
Background Brugada syndrome (BrS) is considered to be an inherited arrhythmic disease
associated with fatal complications and premature sudden unexpected death. The …

Cardiac sodium channel Nav1. 5 and interacting proteins: physiology and pathophysiology

H Abriel - Journal of molecular and cellular cardiology, 2010 - Elsevier
The cardiac voltage-gated Na+ channel Nav1. 5 generates the cardiac Na+ current (INa).
Mutations in SCN5A, the gene encoding Nav1. 5, have been linked to many cardiac …

Molecular genetics and functional anomalies in a series of 248 Brugada cases with 11 mutations in the TRPM4 channel

H Liu, S Chatel, C Simard, N Syam, L Salle, V Probst… - PloS one, 2013 - journals.plos.org
Brugada syndrome (BrS) is a condition defined by ST-segment alteration in right precordial
leads and a risk of sudden death. Because BrS is often associated with right bundle branch …

Epidemiology of arrhythmias and sudden cardiac death in Asia

N Murakoshi, K Aonuma - Circulation Journal, 2013 - jstage.jst.go.jp
ZFHX3) have been identified as common susceptibility genes for AF in European and
Japanese populations. 26 Most importantly, AF is strongly associated with an approximately …

MOG1 A New Susceptibility Gene for Brugada Syndrome

D Kattygnarath, S Maugenre, N Neyroud… - Circulation …, 2011 - Am Heart Assoc
Background—Brugada syndrome (BrS) is caused mainly by mutations in the SCN5A gene,
which encodes the α-subunit of the cardiac sodium channel Nav1. 5. However,≈ 20% of …