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
SCN5A mutation-associated sick sinus syndrome revealed by atrial flutter in a pediatric patient.
Takeda Y et al.
Journal of Cardiology Cases, 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
Genetic Testing in Brugada Syndrome: A 30-Year Experience.
Pannone L et al.
Circulation. Arrhythmia and Electrophysiology, 2024
In silico validation revealed the role of SCN5A mutations and their genotype-phenotype correlations in Brugada syndrome.
Pham HM et al.
Molecular Genetics & Genomic Medicine, 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
Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.
van der Schoot V et al.
European Journal of Human Genetics : Ejhg, 2022
Clinical Spectrum of SCN5A Channelopathy in Children with Primary Electrical Disease and Structurally Normal Hearts.
Villarreal-Molina T et al.
Genes, 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
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
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
Applying High-Resolution Variant Classification to Cardiac Arrhythmogenic Gene Testing in a Demographically Diverse Cohort of Sudden Unexplained Deaths.
Lin Y et al.
Circulation. Cardiovascular Genetics, 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
Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel.
Kapplinger JD et al.
Circulation. Cardiovascular Genetics, 2015
Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths.
Wang D et al.
Forensic Science International, 2014
A novel missense mutation, I890T, in the pore region of cardiac sodium channel causes Brugada syndrome.
Tarradas A et al.
Plos One, 2013
[Clinic and genetic polymorphism of Brugada syndrome in Russian patients, caused by mutation in SCN5A gene].
Zakliaz'minskaia EV et al.
Khirurgiia, 2013
What can be done when asymptomatic patients discover they have Brugada syndrome? A case report of Brugada syndrome.
Doetzer AD et al.
International Journal of Cardiology, 2011
Ventricular fibrillation and ventricular tachycardia triggered by late-coupled ventricular extrasystoles in a Brugada syndrome patient.
Chinushi M et al.
Pacing and Clinical Electrophysiology : Pace, 2011
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
Effects of verapamil on anterior ST segment and ventricular fibrillation cycle length in patients with Brugada syndrome.
Chinushi M et al.
Journal of Electrocardiology, 0