Why the study?
More than 65% of Brugada syndrome cases cannot be explained by coding variants in SCN5A or other genes, leaving underlying mechanisms elusive.
Design
Review
Authors
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Limits clinical genetic diagnosis to SCN5A; leaves open discovery of causal genes in most BrS cases.
The study of both common and rare non-coding variants is increasingly important to understand the genetic basis and incomplete penetrance of Brugada syndrome.
Pérez-Agustín et al. (2020) studied this question.
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