Sodium channel mutations and arrhythmias

Y Ruan, N Liu, SG Priori - Nature Reviews Cardiology, 2009 - nature.com
Since the identification of the first SCN5A mutation associated with long QT syndrome in
1995, several mutations in this gene for the α subunit of the cardiac sodium channel have …

[HTML][HTML] Genetic complexity of sinoatrial node dysfunction

MJ Wallace, M El Refaey, P Mesirca, TJ Hund… - Frontiers in …, 2021 - frontiersin.org
The pacemaker cells of the cardiac sinoatrial node (SAN) are essential for normal cardiac
automaticity. Dysfunction in cardiac pacemaking results in human sinoatrial node …

[HTML][HTML] A proton leak current through the cardiac sodium channel is linked to mixed arrhythmia and the dilated cardiomyopathy phenotype

P Gosselin-Badaroudine, DI Keller, H Huang… - PLoS …, 2012 - journals.plos.org
Cardiac Na+ channels encoded by the SCN5A gene are essential for initiating heart beats
and maintaining a regular heart rhythm. Mutations in these channels have recently been …

Mechanistic Links Between Na+ Channel (SCN5A) Mutations and Impaired Cardiac Pacemaking in Sick Sinus Syndrome

TD Butters, OV Aslanidi, S Inada, MR Boyett… - Circulation …, 2010 - Am Heart Assoc
Rationale: Familial sick sinus syndrome (SSS) has been linked to loss-of-function mutations
of the SCN5A gene, which result in decreased inward Na+ current, I Na. However, the …

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] Genomic and non-genomic regulatory mechanisms of the cardiac sodium channel in cardiac arrhythmias

H Daimi, E Lozano-Velasco, A Aranega… - International Journal of …, 2022 - mdpi.com
Nav1. 5 is the predominant cardiac sodium channel subtype, encoded by the SCN5A gene,
which is involved in the initiation and conduction of action potentials throughout the heart …

Molecular and genetic insights into progressive cardiac conduction disease

B Asatryan, A Medeiros-Domingo - EP Europace, 2019 - academic.oup.com
Progressive cardiac conduction disease (PCCD) is often a primarily genetic disorder, with
clinical and genetic overlaps with other inherited cardiac and metabolic diseases. A number …

A truncating SCN5A mutation combined with genetic variability causes sick sinus syndrome and early atrial fibrillation

A Ziyadeh-Isleem, J Clatot, S Duchatelet… - Heart Rhythm, 2014 - Elsevier
Background Mutations in the SCN5A gene, encoding the α subunit of the cardiac Na+
channel, Na v 1.5, can result in several life-threatening arrhythmias. Objective To …

Voltage-gated sodium channels: mutations, channelopathies and targets

G SB Andavan… - Current medicinal …, 2011 - ingentaconnect.com
Voltage-gated sodium channels produce fast depolarization, which is responsible for the
rising phase of the action potential in neurons, muscles and heart. These channels are very …