ArticleFrontiers in genetics2018
Impact of Ancestral Differences and Reassessment of the Classification of Previously Reported Pathogenic Variants in Patients With Brugada Syndrome in the Genomic Era: A SADS-TW BrS Registry.
Article in Frontiers in genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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Who cites it
9 citing papers in PubMed, 17 citations in OpenAlex.
- Clinical manifestations, genetic profiles, and sudden cardiac arrest in pediatric hypertrophic cardiomyopathy: Challenges of risk prediction for initial sudden cardiac arrest presentations.Heart rhythm O2 · 2025Article
- Genetic Background and Clinical Phenotype in an Italian Cohort with Inherited Arrhythmia Syndromes and Arrhythmogenic Cardiomyopathy (ACM): A Whole-Exome Sequencing Study.International journal of molecular sciences · 2025Article
- Case Report: Lacosamide unmaskingFrontiers in cardiovascular medicine · 2024Article
- Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort.International journal of legal medicine · 2023Article
- Clinical impact of rare variants associated with inherited channelopathies: a 5-year update.Human genetics · 2022Article
- Brugada Syndrome: Different Experimental Models and the Role of Human Cardiomyocytes From Induced Pluripotent Stem Cells.Journal of the American Heart Association · 2022Review
- Discerning the Ambiguous Role of MissenseJournal of personalized medicine · 2022Article
- Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.EBioMedicine · 2020Article
- Brugada Syndrome: Oligogenic or Mendelian Disease?International journal of molecular sciences · 2020Review
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Authors and funding
12 authors at 3 institutions in 2 countries.
Funding
Abstract
Brugada syndrome (BrS) is a heritable disease that results in sudden cardiac death. In the exome/genomic era, certain reported pathogenic variants in some genetic diseases have been reclassified as benign owing to their high frequency in some ancestries. In the present study, we comprehensively reassessed all previously reported pathogenic variants of BrS. We collected all pathogenic variants of BrS reported in the Human Gene Mutation Database and ClinVar throughout April 2017. We compared the minor allele frequency (MAF) of each variant among different ancestries by searching public whole-genome and exome databases. After considering the maximum credible allele frequency, variants with a MAF ≥ 0.001 were considered to be of questionable pathogenicity. We also investigated the percentage of SCN5A variants with a MAF ≥ 0.001 in 124 BrS patients from the Han Chinese population. We collected a total of 440 BrS variants, of which 18 had a MAF ≥ 0.001. There was a greater percentage of non-SCN5A variants with a MAF ≥ 0.001 than of SCN5A variants (21.8 versus 1.6%,
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