Associated Papers
SCN5A variant type-dependent risk prediction in Brugada syndrome.
Aizawa T 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, 2025
Genetic Background and Clinical Phenotype in an Italian Cohort with Inherited Arrhythmia Syndromes and Arrhythmogenic Cardiomyopathy (ACM): A Whole-Exome Sequencing Study.
d'Apolito M et al.
International Journal of Molecular Sciences, 2025
Biophysical mechanisms of myocardium sodium channelopathies.
Zaytseva AK et al.
Pflugers Archiv : European Journal of Physiology, 2024
In Vivo Base Editing of Scn5a Rescues Type 3 Long QT Syndrome in Mice.
Qi M et al.
Circulation, 2024
Multi-site validation of a functional assay to adjudicate SCN5A Brugada Syndrome-associated variants.
Ma JG et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Unravelling Novel SCN5A Mutations Linked to Brugada Syndrome: Functional, Structural, and Genetic Insights.
Frosio A et al.
International Journal of Molecular Sciences, 2023
Brugada Syndrome: More than a Monogenic Channelopathy.
Liantonio A et al.
Biomedicines, 2023
Functional Epicardial Conduction Disturbances Due to a SCN5A Variant Associated With Brugada Syndrome.
Renard E et al.
Jacc. Clinical Electrophysiology, 2023
Clinical characteristics and electrophysiologic properties of SCN5A variants in fever-induced Brugada syndrome.
Chen GX et al.
Ebiomedicine, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
An Adolescent Patient with Sick Sinus Syndrome Complicated by Hypothyroidism Carrying an SCN5A Variant.
Yamane H et al.
International Heart Journal, 2022
Distinct Features of Probands With Early Repolarization and Brugada Syndromes Carrying SCN5A Pathogenic Variants.
Zhang ZH et al.
Journal of the American College of Cardiology, 2021
Comparative structural analysis of human Nav1.1 and Nav1.5 reveals mutational hotspots for sodium channelopathies.
Pan X et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Experimental Models of Brugada syndrome.
Sendfeld F et al.
International Journal of Molecular Sciences, 2019
Exome sequencing identifies molecular diagnosis in children with drug-resistant epilepsy.
Tsang MH et al.
Epilepsia Open, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Predicting changes to INa from missense mutations in human SCN5A.
Clerx M et al.
Scientific Reports, 2018
Genetic Determinants of Hereditary Bradyarrhythmias: A Contemporary Review of a Diverse Group of Disorders.
Rezazadeh S et al.
The Canadian Journal of Cardiology, 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
A variant of Brugada syndrome.
Switzer MP et al.
Proceedings (baylor University. Medical Center), 2017
The genetic basis for inherited forms of sinoatrial dysfunction and atrioventricular node dysfunction.
Milanesi R et al.
Journal of Interventional Cardiac Electrophysiology : an International Journal of Arrhythmias and Pacing, 2015
Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel.
Kapplinger JD et al.
Circulation. Cardiovascular Genetics, 2015
Unique clinical characteristics and SCN5A mutations in patients with Brugada syndrome in Taiwan.
Juang JM et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2015
Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort.
Selga E et al.
Plos One, 2015
Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.
Loussouarn G et al.
Frontiers in Pharmacology, 2015
A novel missense mutation, I890T, in the pore region of cardiac sodium channel causes Brugada syndrome.
Tarradas A et al.
Plos One, 2013
The diagnostic and therapeutic aspects of loss-of-function cardiac sodium channelopathies in children.
Chockalingam P et al.
Heart Rhythm, 2012
Loss-of-function sodium channel mutations in infancy: a pattern unfolds.
Chockalingam P et al.
Circulation, 2012
Brugada-like syndrome in infancy presenting with rapid ventricular tachycardia and intraventricular conduction delay.
Kanter RJ et al.
Circulation, 2012
A novel strategy using cardiac sodium channel polymorphic fragments to rescue trafficking-deficient SCN5A mutations.
Shinlapawittayatorn K et al.
Circulation. Cardiovascular Genetics, 2011
State of the art in forensic investigation of sudden cardiac death.
Oliva A et al.
The American Journal of Forensic Medicine and Pathology, 2011
A new approach to long QT syndrome mutation detection by Sequenom MassARRAY system.
Allegue C et al.
Electrophoresis, 2010
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
The SCN5A gene in Brugada syndrome: mutations, variants, missense and nonsense. What's a clinician to do?
Skinner JR et al.
Heart Rhythm, 2010
Phenotypic overlap of cardiac sodium channelopathies: individual-specific or mutation-specific?
Makita N
Circulation Journal : Official Journal of the Japanese Circulation Society, 2009
Correlations between clinical and physiological consequences of the novel mutation R878C in a highly conserved pore residue in the cardiac Na+ channel.
Zhang Y et al.
Acta Physiologica (oxford, England), 2008
Cardiac sodium channel overlap syndromes: different faces of SCN5A mutations.
Remme CA et al.
Trends in Cardiovascular Medicine, 2008
Role of sodium channels in propagation in heart muscle: how subtle genetic alterations result in major arrhythmic disorders.
Terrenoire C et al.
Journal of Cardiovascular Electrophysiology, 2007
A sodium channel pore mutation causing Brugada syndrome.
Pfahnl AE et al.
Heart Rhythm, 2007