Article
Brugada Syndrome Caused by Sodium Channel Dysfunction Associated with a SCN1B Variant A197V.
Archives of medical research - 1 Apr 2020
Wang Linlin, Han Zhonglin, Dai Jian, Cao Kejiang
Abstract excerpt
OBJECTIVE: We aimed to identify and characterize a SCN1B variant, A197V, associated with Brugada Syndrome (BrS). METHODS: Whole-exome sequencing was employed to explore the potential causative genes in 8 unrelated clinically diagnosed BrS patients. A197V variant was only detected in exon 4 of SCN1B in a 46 year old patient, who was admitted due to syncope. Wild type (WT) and mutant (A197V) genes were co-expressed...
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