Associated Papers
Clinical Features of Brugada Syndrome Patients With SCN5A Variants.
Okamura S et al.
Journal of Cardiovascular Electrophysiology, 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
Genomic analysis of an Ecuadorian individual carrying an SCN5A rare variant.
Cadena-Ullauri S et al.
Bmc Cardiovascular Disorders, 2024
Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease.
Slavotinek AM et al.
Hgg Advances, 2024
Molecular Autopsy With Banked Cord Blood Reveals Brugada Syndrome in Past Sudden Death Case.
Kume E et al.
Pediatrics, 2024
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
Predicting functional effects of ion channel variants using new phenotypic machine learning methods.
Boßelmann CM et al.
Plos Computational Biology, 2023
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
Association Between Deleterious SCN5A Variants and Ventricular Septal Defect in Young Patients With Brugada Syndrome.
Suzuki K et al.
Jacc. Clinical Electrophysiology, 2022
Plasma MicroRNAs as noninvasive diagnostic biomarkers in patients with Brugada syndrome.
Ikeuchi Y et al.
Plos One, 2022
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
Sex-Dependent Phenotypic Variability of an SCN5A Mutation: Brugada Syndrome and Sick Sinus Syndrome.
Aizawa Y et al.
Journal of the American Heart Association, 2018
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
A novel missense mutation, I890T, in the pore region of cardiac sodium channel causes Brugada syndrome.
Tarradas A et al.
Plos One, 2013
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
Letter regarding "SCN9A variant in a family of mixed breed dogs with congenital insensitivity to pain"-Navigating the pathogenicity of candidate gene mutations: Spotlight on paralog Nav genes.
Ishikawa T et al.
Journal of Veterinary Internal Medicine, 0