Article
High-Throughput Reclassification of SCN5A Variants.
American journal of human genetics - 2 Jul 2020
Glazer Andrew M, Wada Yuko, Li Bian, Muhammad Ayesha, Kalash Olivia R, O'Neill Matthew J, Shields Tiffany, Hall Lynn, Short Laura, Blair Marcia A, Kroncke Brett M, Capra John A, Roden Dan M
Abstract excerpt
Partial or complete loss-of-function variants in SCN5A are the most common genetic cause of the arrhythmia disorder Brugada syndrome (BrS1). However, the pathogenicity of SCN5A variants is often unknown or disputed; 80% of the 1,390 SCN5A missense variants observed in at least one individual to d...
Topics
- Arrhythmias, Cardiac
- Brugada Syndrome
- Cell Line
- Female
- Genetic Variation
- Genotype
- HEK293 Cells
- High-Throughput Screening Assays
- Humans
- Male
- NAV1.5 Voltage-Gated Sodium Channel