Associated Papers
A cardiac sodium channelopathy overlap syndrome presenting as stroke in a young child.
Arumugam P et al.
Heartrhythm Case Reports, 2026
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
The many faces of SCN5A pathogenic variants: from channelopathy to cardiomyopathy.
Vouloagkas I et al.
Heart Failure Reviews, 2025
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
Polymorphic Variants of SCN5A Gene (rs41312433 and rs1805124) Associated with Coronary Artery Affliction in Patients with Severe Arrhythmias.
Vašků A et al.
Genes, 2024
Postmortem genetic testing in sudden unexplained death: A public health laboratory experience.
Rohrer CT et al.
Journal of Forensic Sciences, 2023
Gene mutations in comorbidity of epilepsy and arrhythmia.
Yu C et al.
Journal of Neurology, 2023
Clinical impact of rare variants associated with inherited channelopathies: a 5-year update.
Sarquella-Brugada G et al.
Human Genetics, 2022
Novel presentation of SCN5A nonsense mutation as SCN5A overlap syndrome.
Ahn HJ et al.
Heartrhythm Case Reports, 2022
A 59-Year-Old Woman with Familial Brugada Syndrome and the c.664C>T Variant of the Sodium Voltage-Gated Channel Alpha Subunit 5 (SCN5A) Gene, Accompanied by Congenital Absence of the Right Coronary Artery, Patent Foramen Ovale, and Ischemic Stroke.
Katsaras D et al.
The American Journal of Case Reports, 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
Impact of functional studies on exome sequence variant interpretation in early-onset cardiac conduction system diseases.
Hayashi K et al.
Cardiovascular Research, 2020
Frequency of genomic secondary findings among 21,915 eMERGE network participants.
Unknown Author
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Experimental Models of Brugada syndrome.
Sendfeld F et al.
International Journal of Molecular Sciences, 2019
Surveillance after cardiac arrest in patients with Brugada syndrome without an implantable defibrillator: An alarm effect of the previous syncope.
Calvo D et al.
International Journal of Cardiology, 2016
Electrophysiological characterization of a large set of novel variants in the SCN5A-gene: identification of novel LQTS3 and BrS mutations.
Ortiz-Bonnin B et al.
Pflugers Archiv : European Journal of Physiology, 2016
Negative-dominance phenomenon with genetic variants of the cardiac sodium channel Nav1.5.
Sottas V et al.
Biochimica Et Biophysica Acta, 2016
Genetic analysis of cardiac SCN5A Gene in Iranian patients with hereditary cardiac arrhythmias.
Asadi M et al.
Anatolian Journal of Cardiology, 2016
Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort.
Selga E et al.
Plos One, 2015
Criteria to predict carriers of a novel SCN5A mutation in a large Portuguese family affected by the Brugada syndrome.
Santos LF 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, 2012
[Diagnostic criteria for the Brugada syndrome: can they be improved?].
Santos LF et al.
Revista Portuguesa De Cardiologia : Orgao Oficial Da Sociedade Portuguesa De Cardiologia = Portuguese Journal of Cardiology : an Official Journal of the Portuguese Society of Cardiology, 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
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.
Nabbout R et al.
Neurology, 2003
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.
Claes L et al.
American Journal of Human Genetics, 2001