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
Secondary Findings in a Research Cohort: Spectrum and the Indian Perspective.
Motwani P et al.
American Journal of Medical Genetics. Part A, 2025
Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals.
Dzhumaniiazova I et al.
Genes, 2025
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.
Josephs KS et al.
Genome Medicine, 2024
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 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
In Vivo Base Editing of Scn5a Rescues Type 3 Long QT Syndrome in Mice.
Qi M et al.
Circulation, 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
Age and Sex Differences in the Genetics of Cardiomyopathy.
Akinrinade O et al.
Journal of Cardiovascular Translational Research, 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
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
Structural basis for NaV1.7 inhibition by pore blockers.
Zhang J et al.
Nature Structural & Molecular Biology, 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
Inherited and Acquired Rhythm Disturbances in Sick Sinus Syndrome, Brugada Syndrome, and Atrial Fibrillation: Lessons from Preclinical Modeling.
Iop L et al.
Cells, 2021
Calmodulin Interactions with Voltage-Gated Sodium Channels.
Wu X et al.
International Journal of Molecular Sciences, 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
Calmodulin binds to the N-terminal domain of the cardiac sodium channel Nav1.5.
Wang Z et al.
Channels (austin, Tex.), 2020
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
Characterization of an N-terminal Nav1.5 channel variant - a potential risk factor for arrhythmias and sudden death?
Scheiper-Welling S et al.
Bmc Medical Genetics, 2020
High-Throughput Reclassification of SCN5A Variants.
Glazer AM et al.
American Journal of Human Genetics, 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
Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.
Campuzano O et al.
Ebiomedicine, 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
Predicting changes to INa from missense mutations in human SCN5A.
Clerx M et al.
Scientific Reports, 2018
Genetic Determinants of Hereditary Bradyarrhythmias: A Contemporary Review of a Diverse Group of Disorders.
Rezazadeh S et al.
The Canadian Journal of Cardiology, 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
Proarrhythmogenic effects of lamotrigine during ajmaline testing for Brugada syndrome.
Leong KM et al.
Heartrhythm Case Reports, 2017
Negative-dominance phenomenon with genetic variants of the cardiac sodium channel Nav1.5.
Sottas V et al.
Biochimica Et Biophysica Acta, 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
Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort.
Selga E et al.
Plos One, 2015
Cardiac sodium channel NaV1.5 distribution in myocytes via interacting proteins: the multiple pool model.
Shy D et al.
Biochimica Et Biophysica Acta, 2013
Dominant-negative effect of SCN5A N-terminal mutations through the interaction of Na(v)1.5 α-subunits.
Clatot J et al.
Cardiovascular Research, 2012
Unexpected dominance: Brugada syndrome SCN5A variants exert negative dominance via α-subunit interaction.
Rougier JS et al.
Cardiovascular Research, 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
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
Kapplinger JD et al.
Heart Rhythm, 2010