Associated Papers
Leveraging a Genetic Proxy to Investigate the Effects of Lifelong Cardiac Sodium Channel Blockade.
Wanner JS et al.
Circulation, 2025
Clinical presentation and outcomes of patients with biallelic SCN5A variants: A systematic review.
Surget E et al.
Heart Rhythm O2, 2025
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
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Genetic background determines the severity of age-dependent cardiac structural abnormalities and arrhythmia susceptibility in Scn5a-1798insD mice.
Marchal GA 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, 2024
Biophysical mechanisms of myocardium sodium channelopathies.
Zaytseva AK et al.
Pflugers Archiv : European Journal of Physiology, 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
Screening for Rare Coding Variants That Associate With the QTc Interval in Iceland.
Sveinbjornsson G et al.
Journal of the American Heart Association, 2023
FinnGen provides genetic insights from a well-phenotyped isolated population.
Kurki MI et al.
Nature, 2023
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
Phenotypes of mutations related to voltage-dependent sodium channels on children and adolescents.
Ferreira AC et al.
Journal of Biochemical and Molecular Toxicology, 2022
Genetic associations of protein-coding variants in human disease.
Sun BB et al.
Nature, 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
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
Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy.
Raju H et al.
Bmc Cardiovascular Disorders, 2019
Experimental Models of Brugada syndrome.
Sendfeld F et al.
International Journal of Molecular Sciences, 2019
Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy.
Jääskeläinen P et al.
Esc Heart Failure, 2019
Insights into sudden cardiac death: exploring the potential relevance of non-diagnostic autopsy findings.
Raju H et al.
European Heart Journal, 2019
Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy.
Minoche AE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
A leaky voltage sensor domain of cardiac sodium channels causes arrhythmias associated with dilated cardiomyopathy.
Moreau A et al.
Scientific Reports, 2018
Predicting changes to INa from missense mutations in human SCN5A.
Clerx M et al.
Scientific Reports, 2018
Rapid and effective response of the R222Q SCN5A to quinidine treatment in a patient with Purkinje-related ventricular arrhythmia and familial dilated cardiomyopathy: a case report.
Zakrzewska-Koperska J et al.
Bmc Medical Genetics, 2018
Cardiac Arrhythmias Related to Sodium Channel Dysfunction.
Savio-Galimberti E et al.
Handbook of Experimental Pharmacology, 2018
A New Cardiac Channelopathy: From Clinical Phenotypes to Molecular Mechanisms Associated With Nav1.5 Gating Pores.
Moreau A et al.
Frontiers in Cardiovascular Medicine, 2018
SCN5A Variants: Association With Cardiac Disorders.
Li W et al.
Frontiers in Physiology, 2018
Switch From Fetal to Adult SCN5A Isoform in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes Unmasks the Cellular Phenotype of a Conduction Disease-Causing Mutation.
Veerman CC et al.
Journal of the American Heart Association, 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
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies.
Ceyhan-Birsoy O et al.
Molecular Genetics & Genomic Medicine, 2016
Sodium channel haploinsufficiency and structural change in ventricular arrhythmogenesis.
Jeevaratnam K et al.
Acta Physiologica (oxford, England), 2016
Complexities of Genetic Testing in Familial Dilated Cardiomyopathy.
Wolf MJ et al.
Circulation. Cardiovascular Genetics, 2016
Patient Outcomes From a Specialized Inherited Arrhythmia Clinic.
Adler A et al.
Circulation. Arrhythmia and Electrophysiology, 2016
Exome Sequencing Identifies Compound Heterozygous Mutations in SCN5A Associated with Congenital Complete Heart Block in the Thai Population.
Thongnak C et al.
Disease Markers, 2016
The UK10K project identifies rare variants in health and disease.
Walter K et al.
Nature, 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
The role of the SCN5A-encoded channelopathy in irritable bowel syndrome and other gastrointestinal disorders.
Verstraelen TE et al.
Neurogastroenterology and Motility, 2015