Article
A nonsense SCN5A mutation associated with Brugada-type electrocardiogram and intraventricular conduction defects.
Pacing and clinical electrophysiology : PACE - 1 Sept 2009
Samani Kaveh, Ai Tomohiko, Towbin Jeffrey A, Brugada Ramon, Shuraih Mossaab, Xi Yutao, Wu Geru, Cheng Jie, Vatta Matteo
Abstract excerpt
Mutations of SCN5A, gene-encoding alpha-subunit of cardiac sodium channel, can cause mixed phenotypes of Brugada syndrome (BrS) and cardiac conduction diseases (CCD). We have identified a nucleotide change of SCN5A (4178T > G), which results in a nonsense mutation, L1393X, in a 36-year-old Caucas...
Topics
- Adult
- Brugada Syndrome
- Codon, Nonsense
- Genetic Predisposition to Disease
- Heart Conduction System
- Humans
- Male
- Muscle Proteins
- Mutation
- NAV1.5 Voltage-Gated Sodium Channel
- Sodium Channels
- Tachycardia, Ventricular