Associated Papers
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
35037686 (PubMed )
Supplement: awac006_Supplementary_Data.pdf
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
A novel missense mutation, I890T, in the pore region of cardiac sodium channel causes Brugada syndrome.
Tarradas A et al.
Plos One, 2013
23308164 (PubMed )
Supplement: pone.0053220.s002.doc
A new approach to long QT syndrome mutation detection by Sequenom MassARRAY system.
Allegue C et al.
Electrophoresis, 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
Clinical aspects and prognosis of Brugada syndrome in children.
Probst V et al.
Circulation, 2007
A sodium channel pore mutation causing Brugada syndrome.
Pfahnl AE et al.
Heart Rhythm, 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
Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients.
Smits JP et al.
Journal of the American College of Cardiology, 2002
SCN5A channelopathies--an update on mutations and mechanisms.
Zimmer T et al.
Progress in Biophysics and Molecular Biology, 0
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