Article
In silico validation revealed the role of SCN5A mutations and their genotype-phenotype correlations in Brugada syndrome.
Molecular genetics & genomic medicine - 1 Dec 2023
Pham Hung Manh, Dang Duy Phuong, Ta Thanh Dat, Le Thi Phuong, Phan Dinh Phong, Trinh Hoai An, Tran Tuan Viet, Luong Thi Lan Anh, Nguyen Ha Minh, Bui The-Hung, Tran Thinh Huy, Ta Thanh Van, Tran Van-Khanh
Abstract excerpt
BACKGROUND: Brugada syndrome (BrS) is a rare genetic disease that causes sudden cardiac death (SCD) and arrhythmia. SCN5A pathogenic variants (about 30% of diagnosed patients) are responsible for BrS. AIMS: Lack of knowledge regarding molecular characteristics and the correlation between genotype and phenotype interfere with the risk stratification and finding the optimal treatment in Vietnam. Therefore, we...
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