Arrhythmias as presentation of genetic cardiomyopathy

J Lukas Laws, MC Lancaster… - Circulation …, 2022 - Am Heart Assoc
There is increasing evidence regarding the prevalence of genetic cardiomyopathies, for
which arrhythmias may be the first presentation. Ventricular and atrial arrhythmias …

Voltage-Gated Proton Channels: Molecular Biology, Physiology, and Pathophysiology of the HV Family

TE DeCoursey - Physiological reviews, 2013 - journals.physiology.org
Voltage-gated proton channels (HV) are unique, in part because the ion they conduct is
unique. HV channels are perfectly selective for protons and have a very small unitary …

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 …

SCN5A Variants: Association With Cardiac Disorders

W Li, L Yin, C Shen, K Hu, J Ge, A Sun - Frontiers in physiology, 2018 - frontiersin.org
The SCN5A gene encodes the alpha subunit of the main cardiac sodium channel Nav1. 5.
This channel predominates inward sodium current (INa) and plays a critical role in …

Cardiac sodium channelopathy associated with SCN5A mutations: electrophysiological, molecular and genetic aspects

CA Remme - The Journal of physiology, 2013 - Wiley Online Library
Over the last two decades, an increasing number of SCN5A mutations have been described
in patients with long QT syndrome type 3 (LQT3), Brugada syndrome,(progressive) …

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 …

Variant interpretation for dilated cardiomyopathy: refinement of the American College of Medical Genetics and Genomics/ClinGen Guidelines for the DCM Precision …

A Morales, DD Kinnamon, E Jordan, J Platt… - Circulation: Genomic …, 2020 - Am Heart Assoc
Background: The hypothesis of the Dilated Cardiomyopathy Precision Medicine Study is that
most dilated cardiomyopathy has a genetic basis. The study returns results to probands and …

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] The role of mutations in the SCN5A gene in cardiomyopathies

E Zaklyazminskaya, S Dzemeshkevich - Biochimica et Biophysica Acta …, 2016 - Elsevier
The SCN5A gene encodes the alpha-subunit of the Na v 1.5 ion channel protein, which is
responsible for the sodium inward current (I Na). Since 1995 several hundred mutations in …

Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy

JL Wagnon, MH Meisler - Frontiers in neurology, 2015 - frontiersin.org
Mutations of the voltage-gated sodium channel SCN8A have been identified in
approximately 1% of nearly 1,500 children with early-infantile epileptic encephalopathies …