Associated Papers
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
32893267 (PubMed )
Supplement: 41436_2020_946_MOESM2_ESM.xlsx › S3
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
33164571 (PubMed )
Supplement: hcg-13-e002911-s001.pdf
High-Throughput Reclassification of SCN5A Variants.
Glazer AM et al.
American Journal of Human Genetics, 2020
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
SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome.
Probst V et al.
Circulation. Cardiovascular Genetics, 2009
Clinical aspects and prognosis of Brugada syndrome in children.
Probst V et al.
Circulation, 2007
Progressive cardiac conduction defect is the prevailing phenotype in carriers of a Brugada syndrome SCN5A mutation.
Probst V et al.
Journal of Cardiovascular Electrophysiology, 2006
Monomorphic ventricular tachycardia due to Brugada syndrome successfully treated by hydroquinidine therapy in a 3-year-old child.
Probst V et al.
Journal of Cardiovascular Electrophysiology, 2006
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