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- W1413367002 abstract "The Brugada syndrome is characterized by unique ‘coved-type’ ST-segment elevation in the right precordial leads of electrocardiogram and ventricular fibrillation, and is responsible for 4 to 12% of sudden cardiac death in the general population. The frequency is higher in Southeast Asia including Japan compared with Western countries. Brugada syndrome is an inherited disease usually transmitted in an autosomal-dominant manner, and incomplete penetrance is frequently seen within affected families. To date, 20 genes have been associated with Brugada syndrome, but pathogenic mutations in the genes are identified in only about 30% of patients. The genetic background includes mutations in genes encoding sodium channel, calcium channels and potassium channels, as well as proteins affecting ion channels. Mutations in SCN5A, encoding the cardiac predominant sodium channel α-subunit, account for 20 to 30% of patients with Brugada syndrome and mutations in other genes only account for about 5% of patients. Furthermore, a recent genome-wide association study has identified new loci associated with the susceptibility of Brugada syndrome." @default.
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- W1413367002 date "2015-07-30" @default.
- W1413367002 modified "2023-10-12" @default.
- W1413367002 title "Genetics of Brugada syndrome" @default.
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- W1413367002 doi "https://doi.org/10.1038/jhg.2015.97" @default.
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