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 …
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 …
unique. HV channels are perfectly selective for protons and have a very small unitary …
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 …
This channel predominates inward sodium current (INa) and plays a critical role in …
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 …
predominates the cardiac sodium current, I Na, which underlies the fast upstroke of the …
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 …
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 …
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 …
most dilated cardiomyopathy has a genetic basis. The study returns results to probands and …
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) …
in patients with long QT syndrome type 3 (LQT3), Brugada syndrome,(progressive) …
Heritable arrhythmia syndromes associated with abnormal cardiac sodium channel function: ionic and non-ionic mechanisms
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 …
fast upstroke of the action potential. Mutations in SCN5A may cause sodium channel …
Maturation of iPSC-derived cardiomyocytes in a heart-on-a-chip device enables modeling of dilated cardiomyopathy caused by R222Q-SCN5A mutation
M Wauchop, N Rafatian, Y Zhao, W Chen, M Gagliardi… - Biomaterials, 2023 - Elsevier
To better understand sodium channel (SCN5A)-related cardiomyopathies, we generated
ventricular cardiomyocytes from induced pluripotent stem cells obtained from a dilated …
ventricular cardiomyocytes from induced pluripotent stem cells obtained from a dilated …
[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 …
responsible for the sodium inward current (I Na). Since 1995 several hundred mutations in …