Associated Papers
Clinical Spectrum of Arrhythmogenic Entities in Spanish Children Carrying Deleterious SCN5A Variants.
Martínez-Barrios E et al.
International Journal of Molecular Sciences, 2026
Genetic variants associated with ventricular arrhythmias during ajmaline test in Brugada syndrome.
Audiat C 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
Molecular genetics in 1991 arrhythmia probands and 2782 relatives in Norway: Results from 17 years of genetic testing in a national laboratory.
Stava TT et al.
Clinical Genetics, 2024
Mapping structural distribution and gating-property impacts of disease-associated mutations in voltage-gated sodium channels.
Akbari Ahangar A et al.
Iscience, 2024
Biophysical mechanisms of myocardium sodium channelopathies.
Zaytseva AK et al.
Pflugers Archiv : European Journal of Physiology, 2024
Genetic Testing in Brugada Syndrome: A 30-Year Experience.
Pannone L et al.
Circulation. Arrhythmia and Electrophysiology, 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
Mapping Structural Distribution and Gating-Property Impacts of Disease-Associated Missense Mutations in Voltage-Gated Sodium Channels.
Ahangar AA et al.
Biorxiv : the Preprint Server for Biology, 2023
Genetic testing in children with Brugada syndrome: results from a large prospective registry.
Pannone L 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, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Trafficking and Gating Cooperation Between Deficient Nav1.5-mutant Channels to Rescue INa.
Clatot J et al.
Frontiers in Bioscience (landmark Edition), 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
An Adolescent Patient with Sick Sinus Syndrome Complicated by Hypothyroidism Carrying an SCN5A Variant.
Yamane H et al.
International Heart Journal, 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
Case report: Coexistence of myotonia congenita and Brugada syndrome in one family.
Cordenier A et al.
Frontiers in Neurology, 2022
Inherited and Acquired Rhythm Disturbances in Sick Sinus Syndrome, Brugada Syndrome, and Atrial Fibrillation: Lessons from Preclinical Modeling.
Iop L et al.
Cells, 2021
Functionally validated SCN5A variants allow interpretation of pathogenicity and prediction of lethal events in Brugada syndrome.
Ishikawa T et al.
European Heart Journal, 2021
Novel SCN5A variants identified in a group of Iranian Brugada syndrome patients.
Ghaffari T et al.
Functional & Integrative Genomics, 2021
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
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
Inter-Regulation of Kv4.3 and Voltage-Gated Sodium Channels Underlies Predisposition to Cardiac and Neuronal Channelopathies.
Clatot J et al.
International Journal of Molecular Sciences, 2020
Alterations of Nedd4-2-binding capacity in PY-motif of NaV 1.5 channel underlie long QT syndrome and Brugada syndrome.
Wang Y et al.
Acta Physiologica (oxford, England), 2020
A Bayesian method to estimate variant-induced disease penetrance.
Kroncke BM et al.
Plos Genetics, 2020
Acacetin suppresses the electrocardiographic and arrhythmic manifestations of the J wave syndromes.
Di Diego JM et al.
Plos One, 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
Brugada syndrome trafficking-defective Nav1.5 channels can trap cardiac Kir2.1/2.2 channels.
Pérez-Hernández M et al.
Jci Insight, 2018
Predicting changes to INa from missense mutations in human SCN5A.
Clerx M et al.
Scientific Reports, 2018
Prolonged Right Ventricular Ejection Delay in Brugada Syndrome Depends on the Type of SCN5A Variant - Electromechanical Coupling Through Tissue Velocity Imaging as a Bridge Between Genotyping and Phenotyping.
Van Malderen SCH et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2017
Voltage-gated sodium channels assemble and gate as dimers.
Clatot J et al.
Nature Communications, 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
Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome.
Lahrouchi N et al.
Journal of the American College of Cardiology, 2017
p.N1380del mutation in the pore-forming region of SCN5A gene is associated with cardiac conduction disturbance and ventricular tachycardia.
Yang Z et al.
Acta Biochimica Et Biophysica Sinica, 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
SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies.
Bissay V et al.
European Journal of Human Genetics : Ejhg, 2016