Sodium channel β subunits: emerging targets in channelopathies

HA O'Malley, LL Isom - Annual review of physiology, 2015 - annualreviews.org
Voltage-gated sodium channels (VGSCs) are responsible for the initiation and propagation
of action potentials in excitable cells. VGSCs in mammalian brain are heterotrimeric …

Voltage-gated sodium channel β subunits and their related diseases

AA Bouza, LL Isom - Voltage-Gated Sodium Channels: Structure, Function …, 2018 - Springer
Voltage-gated sodium channels are protein complexes comprised of one pore forming α
subunit and two, non-pore forming, β subunits. The voltage-gated sodium channel β …

Beta SARS-CoV-2 variant and BNT162b2 vaccine effectiveness in long-term care facilities in France

B Lefèvre, L Tondeur, Y Madec, R Grant… - The Lancet Healthy …, 2021 - thelancet.com
Variants of SARS-CoV-2 have emerged that are more transmissible than the original virus or
that exhibit some properties of immune escape, or both. The beta (B. 1.351) variant has …

High prevalence of genetic variants previously associated with Brugada syndrome in new exome data

B Risgaard, R Jabbari, L Refsgaard, AG Holst… - Clinical …, 2013 - Wiley Online Library
More than 300 variants in 12 genes have been associated with Brugada syndrome (BrS)
which has a prevalence ranging between 1: 2000 and 1: 100,000. Until recently, there has …

Transcriptional dysregulation underlies both monogenic arrhythmia syndrome and common modifiers of cardiac repolarization

KR Bersell, T Yang, JD Mosley, AM Glazer, AT Hale… - Circulation, 2023 - Am Heart Assoc
Background: Brugada syndrome (BrS) is an inherited arrhythmia syndrome caused by loss-
of-function variants in the cardiac sodium channel gene SCN5A (sodium voltage-gated …

The genetic component of Brugada syndrome

MW Nielsen, AG Holst, SP Olesen… - Frontiers in physiology, 2013 - frontiersin.org
Brugada syndrome (BrS) is a clinical entity first described in 1992. BrS is characterized by
ST-segment elevations in the right precordial leads and susceptibility to ventricular …

Voltage-gated sodium channel β1/β1B subunits regulate cardiac physiology and pathophysiology

N Edokobi, LL Isom - Frontiers in Physiology, 2018 - frontiersin.org
Cardiac myocyte contraction is initiated by a set of intricately orchestrated electrical
impulses, collectively known as action potentials (APs). Voltage-gated sodium channels …

Remodeling of ion channel trafficking and cardiac arrhythmias

CE Blandin, BJ Gravez, SN Hatem, E Balse - Cells, 2021 - mdpi.com
Both inherited and acquired cardiac arrhythmias are often associated with the abnormal
functional expression of ion channels at the cellular level. The complex machinery that …

Cardiac ion channelopathies and the sudden infant death syndrome

R Wilders - International Scholarly Research Notices, 2012 - Wiley Online Library
The sudden infant death syndrome (SIDS) causes the sudden death of an apparently
healthy infant, which remains unexplained despite a thorough investigation, including the …

SCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patients

MT Ricci, S Menegon, S Vatrano, G Mandrile… - Scientific Reports, 2014 - nature.com
Brugada syndrome is characterised by a typical ECG with ST segment elevation in the right
precordial leads. Individuals with this condition are susceptible to ventricular arrhythmias …