SCN5A channelopathy: arrhythmia, cardiomyopathy, epilepsy and beyond

CA Remme - … Transactions of the Royal Society B, 2023 - royalsocietypublishing.org
Influx of sodium ions through voltage-gated sodium channels in cardiomyocytes is essential
for proper electrical conduction within the heart. Both acquired conditions associated with …

Heritable arrhythmia syndromes associated with abnormal cardiac sodium channel function: ionic and non-ionic mechanisms

MR Rivaud, M Delmar, CA Remme - Cardiovascular research, 2020 - academic.oup.com
The cardiac sodium channel NaV1. 5, encoded by the SCN5A gene, is responsible for the
fast upstroke of the action potential. Mutations in SCN5A may cause sodium channel …

[HTML][HTML] Life Cycle of the Cardiac Voltage-Gated Sodium Channel NaV1.5

C Dong, Y Wang, A Ma, T Wang - Frontiers in physiology, 2020 - frontiersin.org
Cardiac voltage-gated sodium channel NaV1. 5, encoded by SCN5A, is crucial for the
upstroke of action potential and excitation of cardiomyocytes. NaV1. 5 undergoes complex …

Dysfunctional Nav1. 5 channels due to SCN5A mutations

D Han, H Tan, C Sun, G Li - Experimental Biology and …, 2018 - journals.sagepub.com
The voltage-gated sodium channel 1.5 (Nav1. 5), encoded by the SCN5A gene, is
responsible for the rising phase of the action potential of cardiomyocytes. The sodium …

Inherited cardiac diseases caused by mutations in the Nav1. 5 sodium channel

J TFELT‐HANSEN, BG Winkel… - Journal of …, 2010 - Wiley Online Library
Cardiac Diseases Caused by SCN5A Mutations. A prerequisite for a normal cardiac function
is a proper generation and propagation of electrical impulses. Contraction of the heart is …

[HTML][HTML] Gain-of-function mutation in SCN5A causes ventricular arrhythmias and early onset atrial fibrillation

KV Lieve, AO Verkerk, S Podliesna… - International journal of …, 2017 - Elsevier
Abstract Background Mutations in SCN5A, the gene encoding the α-subunit of the cardiac
sodium channel (NaV1. 5), are associated with a broad spectrum of inherited cardiac …

[HTML][HTML] Disease Modifiers of Inherited SCN5A Channelopathy

AO Verkerk, AS Amin, CA Remme - Frontiers in Cardiovascular …, 2018 - frontiersin.org
To date, a large number of mutations in SCN5A, the gene encoding the pore-forming α-
subunit of the primary cardiac Na+ channel (NaV1. 5), have been found in patients …

Biology of cardiac sodium channel Nav1.5 expression

MB Rook, MM Evers, MA Vos… - Cardiovascular …, 2012 - academic.oup.com
Abstract Nav1. 5, the pore forming α-subunit of the voltage-dependent cardiac Na+ channel,
is an integral membrane protein involved in the initiation and conduction of action potentials …

[HTML][HTML] Mouse Models of SCN5A-Related Cardiac Arrhythmias

M Derangeon, J Montnach, I Baró… - Frontiers in …, 2012 - frontiersin.org
Mutations of SCN5A gene, which encodes the α-subunit of the voltage-gated Na+ channel
NaV1. 5, underlie hereditary cardiac arrhythmic syndromes such as the type 3 long QT …

The cardiac sodium channel gene SCN5A and its gene product NaV1. 5: Role in physiology and pathophysiology

CC Veerman, AAM Wilde, EM Lodder - Gene, 2015 - Elsevier
The gene SCN5A encodes the main cardiac sodium channel Na V 1.5. This channel
predominates the cardiac sodium current, I Na, which underlies the fast upstroke of the …