Associated Papers
Atrial Dilated Cardiomyopathy: From Molecular Pathogenesis to Clinical Implications.
Carella MC et al.
Journal of Clinical Medicine, 2025
Complex interactions between p.His558Arg and linked variants in the sodium voltage-gated channel alpha subunit 5 (Na V 1.5).
Lopes-Marques M et al.
Peerj, 2022
Predicting changes to INa from missense mutations in human SCN5A.
Clerx M et al.
Scientific Reports, 2018
Multifocal atrial and ventricular premature contractions with an increased risk of dilated cardiomyopathy caused by a Nav1.5 gain-of-function mutation (G213D).
Calloe K et al.
International Journal of Cardiology, 2018
Electrocardiogram changes and atrial arrhythmias in individuals carrying sodium channel SCN5A D1275N mutation.
Vanninen SUM et al.
Annals of Medicine, 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 role of mutations in the SCN5A gene in cardiomyopathies.
Zaklyazminskaya E et al.
Biochimica Et Biophysica Acta, 2016
Genetic Variation of SCN5A in Korean Patients with Sick Sinus Syndrome.
Lee YS et al.
Korean Circulation Journal, 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
Utilizing multiple in silico analyses to identify putative causal SCN5A variants in Brugada syndrome.
Juang JM et al.
Scientific Reports, 2014
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
[Cardiac sinus node dysfunction due to a new mutation of the SCN5A gene].
Selly JB et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2012
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
Phenotypic overlap of cardiac sodium channelopathies: individual-specific or mutation-specific?
Makita N
Circulation Journal : Official Journal of the Japanese Circulation Society, 2009
Sodium channel mutations and arrhythmias.
Ruan Y et al.
Nature Reviews. Cardiology, 2009
The primary arrhythmia syndromes: same mutation, different manifestations. Are we starting to understand why?
Scicluna BP et al.
Journal of Cardiovascular Electrophysiology, 2008
Congenital atrial standstill associated with coinheritance of a novel SCN5A mutation and connexin 40 polymorphisms.
Makita N et al.
Heart Rhythm, 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