Associated Papers
Phenotypic expression of rare progressive cardiac conduction disease variants in the general population.
Shah RA 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
SCN10A-short gene therapy to restore conduction and protect against malignant cardiac arrhythmias.
Wang J et al.
European Heart Journal, 2025
SCN5A missense variants and their contribution to deaths in Sudden Unexplained Nocturnal Death Syndrome (SUNDS).
Chaloemthanetphong A et al.
Forensic Science International. Genetics, 2025
Biophysical mechanisms of myocardium sodium channelopathies.
Zaytseva AK et al.
Pflugers Archiv : European Journal of Physiology, 2024
Reprogramming of a human induced pluripotent stem cell line from a long QT syndrome patient harboring a heterozygous mutation of c.1537C > T in SCN5A gene.
Chen J et al.
Stem Cell Research, 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
SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A Families.
Wijeyeratne YD et al.
Circulation. Genomic and Precision Medicine, 2020
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
Retrospective Genetic Analysis of 200 Cases of Sudden Infant Death Syndrome and Its Relationship with Long QT Syndrome in Korea.
Son MJ et al.
Journal of Korean Medical Science, 2018
Dysfunctional Nav1.5 channels due to SCN5A mutations.
Han D et al.
Experimental Biology and Medicine (maywood, N.j.), 2018
Genetic Variation of SCN5A in Korean Patients with Sick Sinus Syndrome.
Lee YS et al.
Korean Circulation Journal, 2016
Cardiac Na Channels: Structure to Function.
DeMarco KR et al.
Current Topics in Membranes, 2016
Mutational analysis of SCN5A gene in long QT syndrome.
Qureshi SF et al.
Meta Gene, 2015
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
Regulation of the cardiac Na+ channel NaV1.5 by post-translational modifications.
Marionneau C et al.
Journal of Molecular and Cellular Cardiology, 2015
Abnormal sodium current properties contribute to cardiac electrical and contractile dysfunction in a mouse model of myotonic dystrophy type 1.
Algalarrondo V et al.
Neuromuscular Disorders : Nmd, 2015
CaMKII-dependent regulation of cardiac Na(+) homeostasis.
Grandi E et al.
Frontiers in Pharmacology, 2014
The diagnostic and therapeutic aspects of loss-of-function cardiac sodium channelopathies in children.
Chockalingam P et al.
Heart Rhythm, 2012
[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
Genetic Analysis of SCN5A in Korean Patients Associated with Atrioventricular Conduction Block.
Park HS et al.
Genomics & Informatics, 2012
A new approach to long QT syndrome mutation detection by Sequenom MassARRAY system.
Allegue C et al.
Electrophoresis, 2010
The genetic basis of Brugada syndrome: a mutation update.
Hedley PL et al.
Human Mutation, 2009
Characterization of a novel Nav1.5 channel mutation, A551T, associated with Brugada syndrome.
Chiang KC et al.
Journal of Biomedical Science, 2009
Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.
Meregalli PG et al.
Heart Rhythm, 2009
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
Sodium channel kinetic changes that produce Brugada syndrome or progressive cardiac conduction system disease.
Zhang ZS et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2007
Sodium channel variants in heart disease: expanding horizons.
Tan HL
Journal of Cardiovascular Electrophysiology, 2006
Pharmacogenetics and cardiac ion channels.
Roepke TK et al.
Vascular Pharmacology, 2006
Molecular basis of isolated cardiac conduction disease.
Viswanathan PC et al.
Handbook of Experimental Pharmacology, 2006
Congenital atrial standstill associated with coinheritance of a novel SCN5A mutation and connexin 40 polymorphisms.
Makita N et al.
Heart Rhythm, 2005
Inherited disorders of voltage-gated sodium channels.
George AL
The Journal of Clinical Investigation, 2005
Genetic polymorphisms and haplotypes of the human cardiac sodium channel alpha subunit gene (SCN5A) in Japanese and their association with arrhythmia.
Maekawa K et al.
Annals of Human Genetics, 2005
A mutation in the human cardiac sodium channel (E161K) contributes to sick sinus syndrome, conduction disease and Brugada syndrome in two families.
Smits JP et al.
Journal of Molecular and Cellular Cardiology, 2005
Mechanisms of inherited cardiac conduction disease.
Smits JP 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, 2005
Genetics of atrioventricular conduction disease in humans.
Benson DW
The Anatomical Record. Part A, Discoveries in Molecular, Cellular, and Evolutionary Biology, 2004
A cardiac sodium channel mutation identified in Brugada syndrome associated with atrial standstill.
Takehara N et al.
Journal of Internal Medicine, 2004
A novel mutation L619F in the cardiac Na+ channel SCN5A associated with long-QT syndrome (LQT3): a role for the I-II linker in inactivation gating.
Wehrens XH et al.
Human Mutation, 2003
Inherited arrhythmic disorders in Japan.
Hiraoka M
Journal of Cardiovascular Electrophysiology, 2003
Genetic control of sodium channel function.
Tan HL et al.
Cardiovascular Research, 2003
Serum and glucocorticoid inducible kinases in the regulation of the cardiac sodium channel SCN5A.
Boehmer C et al.
Cardiovascular Research, 2003
Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system.
Bezzina CR et al.
Circulation Research, 2003
A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation.
Viswanathan PC et al.
The Journal of Clinical Investigation, 2003
Brugada syndrome: in search of a genotype-phenotype relationship.
Smits JP et al.
Herzschrittmachertherapie & Elektrophysiologie, 2002
A mutant cardiac sodium channel with multiple biophysical defects associated with overlapping clinical features of Brugada syndrome and cardiac conduction disease.
Shirai N et al.
Cardiovascular Research, 2002
Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block.
Wang DW et al.
Circulation, 2002
A sodium-channel mutation causes isolated cardiac conduction disease.
Tan HL et al.
Nature, 2001
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