Article
Novel SCN5A p.V1429M Variant Segregation in a Family with Brugada Syndrome.
International journal of molecular sciences - 17 Aug 2020
Monasky Michelle M, Micaglio Emanuele, Ciconte Giuseppe, Borrelli Valeria, Giannelli Luigi, Vicedomini Gabriele, Ghiroldi Andrea, Anastasia Luigi, Locati Emanuela T, Benedetti Sara, Di Resta Chiara, Casari Giorgio, Pappone Carlo
Abstract excerpt
Brugada syndrome (BrS) is diagnosed by the presence of an elevated ST-segment and can result in sudden cardiac death. The most commonly found mutated gene is SCN5A, which some argue is the only gene that has been definitively confirmed to cause BrS, while the potential causative effect of other genes is still under debate. While the issue of BrS genetics is currently a hot topic, current knowledge is not able to...
Topics
- Adult
- Aged
- Brugada Syndrome
- Female
- Heterozygote
- Humans
- Male
- Middle Aged
- Mutation
- NAV1.5 Voltage-Gated Sodium Channel
- Pedigree