Associated Papers
SCN5A missense variants and their contribution to deaths in Sudden Unexplained Nocturnal Death Syndrome (SUNDS).
Chaloemthanetphong A et al.
Forensic Science International. Genetics, 2025
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
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
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
Sex-Dependent Phenotypic Variability of an SCN5A Mutation: Brugada Syndrome and Sick Sinus Syndrome.
Aizawa Y et al.
Journal of the American Heart Association, 2018
Predicting changes to INa from missense mutations in human SCN5A.
Clerx M et al.
Scientific Reports, 2018
Brugada syndrome and sinus node dysfunction.
Hayashi H et al.
Journal of Arrhythmia, 2018
Demographic history and biologically relevant genetic variation of Native Mexicans inferred from whole-genome sequencing.
Romero-Hidalgo S et al.
Nature Communications, 2017
Genetic Determinants of Hereditary Bradyarrhythmias: A Contemporary Review of a Diverse Group of Disorders.
Rezazadeh S et al.
The Canadian Journal of Cardiology, 2017
Further Insights in the Most Common SCN5A Mutation Causing Overlapping Phenotype of Long QT Syndrome, Brugada Syndrome, and Conduction Defect.
Veltmann C et al.
Journal of the American Heart Association, 2016
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
p.Y1449C SCN5A mutation associated with overlap disorder comprising conduction disease, Brugada syndrome, and atrial flutter.
Hothi SS et al.
Journal of Cardiovascular Electrophysiology, 2015
Pathophysiological Mechanisms of Sino-Atrial Dysfunction and Ventricular Conduction Disease Associated with SCN5A Deficiency: Insights from Mouse Models.
Huang CL et al.
Frontiers in Physiology, 2012
Multiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome.
Gui J et al.
Plos One, 2010
Mutation-specific effects of polymorphism H558R in SCN5A-related sick sinus syndrome.
Gui J et al.
Journal of Cardiovascular Electrophysiology, 2010
A new approach to long QT syndrome mutation detection by Sequenom MassARRAY system.
Allegue C et al.
Electrophoresis, 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
Brugada syndrome in Japan.
Hiraoka M
Circulation Journal : Official Journal of the Japanese Circulation Society, 2007
High risk for bradyarrhythmic complications in patients with Brugada syndrome caused by SCN5A gene mutations.
Makiyama T et al.
Journal of the American College of Cardiology, 2005
Genetic Na+ channelopathies and sinus node dysfunction.
Lei M et al.
Progress in Biophysics and Molecular Biology, 0
SCN5A channelopathies--an update on mutations and mechanisms.
Zimmer T et al.
Progress in Biophysics and Molecular Biology, 0