p.Y1449C SCN5A Mutation Associated with Overlap Disorder Comprising Conduction Disease, Brugada Syndrome, and Atrial Flutter
Author:
Affiliation:
1. Physiological Laboratory; University of Cambridge; Cambridge UK
2. Murray Edwards College; University of Cambridge; Cambridge UK
3. Heart Centre; Northampton General Hospital; Northampton UK
4. Glenfield Hospital; Leicester UK
Publisher
Wiley
Subject
Physiology (medical),Cardiology and Cardiovascular Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/jce.12470/fullpdf
Reference23 articles.
1. Study Group on the Molecular Basis of Arrhythmias of the European Society of Cardiology: Proposed diagnostic criteria for the Brugada syndrome;Wilde;Eur Heart J,2002
2. Right bundle branch block, persistent ST segment elevation and sudden cardiac death: A distinct clinical and electrocardiographic syndrome. A multicenter report;Brugada;J Am Coll Cardiol,1992
3. An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart;Kapplinger;Rhythm,2010
4. Brugada syndrome 2012;Berne;Circ J,2012
5. Abrupt rate accelerations or premature beats cause life-threatening arrhythmias in mice with long-QT3 syndrome;Nuyens;Nat Med,2001
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1. Case Report: Comprehensive evaluation of ECG phenotypes and genotypes in a family with Brugada syndrome carrying SCN5A-R376H;Frontiers in Cardiovascular Medicine;2024-03-15
2. Genomic and Non-Genomic Regulatory Mechanisms of the Cardiac Sodium Channel in Cardiac Arrhythmias;International Journal of Molecular Sciences;2022-01-26
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4. Brugada Syndrome: Warning of a Systemic Condition?;Frontiers in Cardiovascular Medicine;2021-10-15
5. Brugada syndrome masked by complete left bundle branch block: A clinical and functional study of its association with the p.1449Y>H SCN5A variant;Journal of Cardiovascular Electrophysiology;2021-09
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