Associated Papers
A Rare Noncoding Enhancer Variant in SCN5A Contributes to the High Prevalence of Brugada Syndrome in Thailand.
Walsh R et al.
Circulation, 2025
Sudden unexpected postnatal collapse and BUB1B mutation: first forensic case report.
Esposito M et al.
International Journal of Legal Medicine, 2024
Biophysical mechanisms of myocardium sodium channelopathies.
Zaytseva AK et al.
Pflugers Archiv : European Journal of Physiology, 2024
Gene and stem cell therapy for inherited cardiac arrhythmias.
Zhang ZH et al.
Pharmacology & Therapeutics, 2024
Genetic Testing in Brugada Syndrome: A 30-Year Experience.
Pannone L et al.
Circulation. Arrhythmia and Electrophysiology, 2024
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
Brugada Syndrome Associated with Different Heterozygous SCN5A Variants in Two Unrelated Families.
Molitor N et al.
Journal of Clinical Medicine, 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
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
Genetic Factors Underlying Sudden Infant Death Syndrome.
Keywan C et al.
The Application of Clinical Genetics, 2021
Genetic Characteristics and Transcriptional Regulation of Sodium Channel Related Genes in Chinese Patients With Brugada Syndrome.
Zhang Z et al.
Frontiers in Cardiovascular Medicine, 2021
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
The role of sodium channels in sudden unexpected death in pediatrics.
Rochtus AM et al.
Molecular Genetics & Genomic Medicine, 2020
Deep Mutational Scan of an SCN5A Voltage Sensor.
Glazer AM et al.
Circulation. Genomic and Precision Medicine, 2020
Life Cycle of the Cardiac Voltage-Gated Sodium Channel NaV1.5.
Dong C et al.
Frontiers in Physiology, 2020
Experimental Models of Brugada syndrome.
Sendfeld F et al.
International Journal of Molecular Sciences, 2019
Genotype-phenotype relationship and risk stratification in loss-of-function SCN5A mutation carriers.
Robyns T et al.
Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 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
Sudden infant death syndrome and inherited cardiac conditions.
Baruteau AE et al.
Nature Reviews. Cardiology, 2017
Ion channelopathies associated genetic variants as the culprit for sudden unexplained death.
Wang S et al.
Forensic Science International, 2017
De Novo Mutation in the SCN5A Gene Associated with Brugada Syndrome.
Wang L et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2015
The genetic component of Brugada syndrome.
Nielsen MW et al.
Frontiers in Physiology, 2013
Forever young: induced pluripotent stem cells as models of inherited arrhythmias.
Park DS et al.
Circulation, 2012
Cardiac ion channelopathies and the sudden infant death syndrome.
Wilders R
Isrn Cardiology, 2012
Cardiac ion channel mutations in the sudden infant death syndrome.
Klaver EC et al.
International Journal of Cardiology, 2011
[Readthrough of nonsense mutation W822X in the SCN5A gene can effectively restore expression of cardiac Na+ channels W822X].
Zhang JT et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2011
Brugada syndrome ECG provoked by the selective serotonin reuptake inhibitor fluvoxamine.
Stirnimann G 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, 2010
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
Readthrough of nonsense mutation W822X in the SCN5A gene can effectively restore expression of cardiac Na+ channels.
Teng S et al.
Cardiovascular Research, 2009
Immunohistochemical marker for Na+ CP type Valpha (C-20) and heterozygous nonsense SCN5A mutation W822X in a sudden cardiac death induced by mild anaphylactic reaction.
Turillazzi E et al.
Applied Immunohistochemistry & Molecular Morphology : Aimm, 2009
Heterozygous nonsense SCN5A mutation W822X explains a simultaneous sudden infant death syndrome.
Turillazzi E et al.
Virchows Archiv : an International Journal of Pathology, 2008
Role of sodium channels in propagation in heart muscle: how subtle genetic alterations result in major arrhythmic disorders.
Terrenoire C et al.
Journal of Cardiovascular Electrophysiology, 2007
A novel nonsense mutation in the SCN5A gene leads to Brugada syndrome and a silent gene mutation carrier state.
Keller DI et al.
The Canadian Journal of Cardiology, 2005
Clinical aspects and physiopathology of Brugada syndrome: review of current concepts.
Herbert E et al.
Canadian Journal of Physiology and Pharmacology, 0
SCN5A channelopathies--an update on mutations and mechanisms.
Zimmer T et al.
Progress in Biophysics and Molecular Biology, 0