Associated Papers
SCN5A Cardiomyopathy: from Ion Channel Dysfunction To Clinical Disease.
Heymans ABM et al.
Current Cardiology Reports, 2025
Genetic background determines the severity of age-dependent cardiac structural abnormalities and arrhythmia susceptibility in Scn5a-1798insD mice.
Marchal GA et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2024
Arrhythmic Phenotypes Are a Defining Feature of Dilated Cardiomyopathy-Associated SCN5A Variants: A Systematic Review.
Peters S et al.
Circulation. Genomic and Precision Medicine, 2022
Familial Dilated Cardiomyopathy and Sudden Cardiac Arrest: New Association with a SCN5A Mutation.
Rico Y et al.
Genes, 2021
Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.
Campuzano O et al.
Ebiomedicine, 2020
Cardiac Sodium Channel Dysfunction and Dilated Cardiomyopathy: A Contemporary Reappraisal of Pathophysiological Concepts.
Asatryan B
Journal of Clinical Medicine, 2019
SCN5A Variants: Association With Cardiac Disorders.
Li W et al.
Frontiers in Physiology, 2018
Novel idiopathic DCM-related SCN5A variants localised in DI-S4 predispose electrical disorders by reducing peak sodium current density.
Shen C et al.
Journal of Medical Genetics, 2017
Genetic Testing in the Evaluation of Unexplained Cardiac Arrest: From the CASPER (Cardiac Arrest Survivors With Preserved Ejection Fraction Registry).
Mellor G et al.
Circulation. Cardiovascular Genetics, 2017
The role of mutations in the SCN5A gene in cardiomyopathies.
Zaklyazminskaya E et al.
Biochimica Et Biophysica Acta, 2016
Dilated cardiomyopathy: a disease of the myocardium.
Sanbe A
Biological & Pharmaceutical Bulletin, 2013
SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism.
McNair WP et al.
Journal of the American College of Cardiology, 2011
LQTS mutation N1325S in cardiac sodium channel gene SCN5A causes cardiomyocyte apoptosis, cardiac fibrosis and contractile dysfunction in mice.
Zhang T et al.
International Journal of Cardiology, 2011
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
Kapplinger JD et al.
Heart Rhythm, 2010
Dilated cardiomyopathy due to sodium channel dysfunction: what is the connection?
Bezzina CR et al.
Circulation. Arrhythmia and Electrophysiology, 2008
Inherited arrhythmias: a National Heart, Lung, and Blood Institute and Office of Rare Diseases workshop consensus report about the diagnosis, phenotyping, molecular mechanisms, and therapeutic approaches for primary cardiomyopathies of gene mutations affecting ion channel function.
Lehnart SE et al.
Circulation, 2007
Dilated cardiomyopathy is associated with reduced expression of the cardiac sodium channel Scn5a.
Hesse M et al.
Cardiovascular Research, 2007
Sodium channel variants in heart disease: expanding horizons.
Tan HL
Journal of Cardiovascular Electrophysiology, 2006
Sodium channel mutations and susceptibility to heart failure and atrial fibrillation.
Olson TM et al.
Jama, 2005