Associated Papers
Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals.
Dzhumaniiazova I et al.
Genes, 2025
Functional reassessment of Nav1.5 T559A reveals loss-of-function in a variant commonly used as wild type.
Melgari D et al.
American Journal of Physiology. Cell Physiology, 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
Certain vs. uncertain actionable secondary findings in a cohort of 500 Lebanese participants: What to report to the patient?
Hanna EM et al.
Plos One, 2025
Generation of two induced pluripotent stem cell (iPSC) lines carrying the Brugada Syndrome-associated mutation SCN5A-R282H.
Popović NZ et al.
Stem Cell Research, 2024
Neglected Mendelian causes of stroke in adult Chinese patients who had an ischaemic stroke or transient ischaemic attack.
Li W et al.
Stroke and Vascular Neurology, 2024
Biophysical mechanisms of myocardium sodium channelopathies.
Zaytseva AK et al.
Pflugers Archiv : European Journal of Physiology, 2024
Clinical characteristics and electrophysiologic properties of SCN5A variants in fever-induced Brugada syndrome.
Chen GX et al.
Ebiomedicine, 2023
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
Genetic variants in Colombian patients with inherited cardiac conditions.
Rucinski C et al.
Molecular Genetics & Genomic Medicine, 2022
Dominant negative effects of SCN5A missense variants.
O'Neill MJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Genomic and Non-Genomic Regulatory Mechanisms of the Cardiac Sodium Channel in Cardiac Arrhythmias.
Daimi H et al.
International Journal of Molecular Sciences, 2022
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
Functionally validated SCN5A variants allow interpretation of pathogenicity and prediction of lethal events in Brugada syndrome.
Ishikawa T et al.
European Heart Journal, 2021
Next-generation sequencing revealed recurrent ZFPM1 mutations in encapsulated papillary carcinoma of the breast.
Liu X et al.
Npj Precision Oncology, 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
A Heart Failure-Associated SCN5A Splice Variant Leads to a Reduction in Sodium Current Through Coupled-Gating With the Wild-Type Channel.
Zheng Y et al.
Frontiers in Physiology, 2021
Life Cycle of the Cardiac Voltage-Gated Sodium Channel NaV1.5.
Dong C et al.
Frontiers in Physiology, 2020
Experimental Models of Brugada syndrome.
Sendfeld F et al.
International Journal of Molecular Sciences, 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
The Return of Actionable Variants Empirical (RAVE) Study, a Mayo Clinic Genomic Medicine Implementation Study: Design and Initial Results.
Kullo IJ et al.
Mayo Clinic Proceedings, 2018
Predicting changes to INa from missense mutations in human SCN5A.
Clerx M et al.
Scientific Reports, 2018
H558R, a common SCN5A polymorphism, modifies the clinical phenotype of Brugada syndrome by modulating DNA methylation of SCN5A promoters.
Matsumura H et al.
Journal of Biomedical Science, 2017
Genotype-Phenotype Correlation of SCN5A Mutation for the Clinical and Electrocardiographic Characteristics of Probands With Brugada Syndrome: A Japanese Multicenter Registry.
Yamagata K et al.
Circulation, 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
p.D1690N sodium voltage-gated channel α subunit 5 mutation reduced sodium current density and is associated with Brugada syndrome.
Zeng Z et al.
Molecular Medicine Reports, 2016
Cardiac Sodium Channel Mutations: Why so Many Phenotypes?
Liu M et al.
Current Topics in Membranes, 2016
Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.
Loussouarn G et al.
Frontiers in Pharmacology, 2015
Cardiac sodium channel mutations: why so many phenotypes?
Liu M et al.
Nature Reviews. Cardiology, 2014
H558R polymorphism in SCN5A is associated with Keshan disease and QRS prolongation in Keshan disease patients.
Jiang S et al.
Genetics and Molecular Research : Gmr, 2014
Gain-of-function mutation in TASK-4 channels and severe cardiac conduction disorder.
Friedrich C et al.
Embo Molecular Medicine, 2014
Utilizing multiple in silico analyses to identify putative causal SCN5A variants in Brugada syndrome.
Juang JM et al.
Scientific Reports, 2014
A heterozygous missense SCN5A mutation associated with early repolarization syndrome.
Li N et al.
International Journal of Molecular Medicine, 2013
p.D1690N Nav1.5 rescues p.G1748D mutation gating defects in a compound heterozygous Brugada syndrome patient.
Núñez L et al.
Heart Rhythm, 2013
A novel missense mutation, I890T, in the pore region of cardiac sodium channel causes Brugada syndrome.
Tarradas A et al.
Plos One, 2013
Modeling SNP mediated differential targeting of homologous 3'UTR by microRNA.
Ahluwalia JK et al.
Rna Biology, 2012
A novel strategy using cardiac sodium channel polymorphic fragments to rescue trafficking-deficient SCN5A mutations.
Shinlapawittayatorn K et al.
Circulation. Cardiovascular Genetics, 2011
Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac sodium channel.
Wilde AA et al.
Circulation Research, 2011
A common SCN5A polymorphism modulates the biophysical defects of SCN5A mutations.
Shinlapawittayatorn K et al.
Heart Rhythm, 2011
Pleiotropic mutations in ion channels: what lies behind them?
Crotti L
Heart Rhythm, 2011
Brugada-type electrocardiogram in a patient with hypothyroidism.
Taira K et al.
Journal of Cardiology Cases, 2010
Efficacy of low-dose bepridil for prevention of ventricular fibrillation in patients with Brugada syndrome with and without SCN5A mutation.
Murakami M et al.
Journal of Cardiovascular Pharmacology, 2010
Rescue of mutated cardiac ion channels in inherited arrhythmia syndromes.
Balijepalli SY et al.
Journal of Cardiovascular Pharmacology, 2010
Genetics of Brugada syndrome.
Campuzano O et al.
Current Opinion in Cardiology, 2010
A new approach to long QT syndrome mutation detection by Sequenom MassARRAY system.
Allegue C et al.
Electrophoresis, 2010
The genetic basis of long QT and short QT syndromes: a mutation update.
Hedley PL et al.
Human Mutation, 2009