Article
Contribution of Cardiac Sodium Channel β-Subunit Variants to Brugada Syndrome.
Circulation journal : official journal of the Japanese Circulation Society - 1 Jan 2015
Peeters Uschi, Scornik Fabiana, Riuró Helena, Pérez Guillermo, Komurcu-Bayrak Evrim, Van Malderen Sophie, Pappaert Gudrun, Tarradas Anna, Pagans Sara, Daneels Dorien, Breckpot Karine, Brugada Pedro, Bonduelle Maryse, Brugada Ramon, Van Dooren Sonia
Abstract excerpt
BACKGROUND: Brugada syndrome (BrS) is an inheritable cardiac disease associated with syncope, malignant ventricular arrhythmias and sudden cardiac death. The largest proportion of mutations in BrS is found in the SCN5A gene encoding the α-subunit of cardiac sodium channels (Nav1.5). Causal SCN5A mutations are present in 18-30% of BrS patients. The additional genetic diagnostic yield of variants in cardiac sodium...
Topics
- Adult
- Aged
- Brugada Syndrome
- Female
- HEK293 Cells
- Humans
- Male
- Middle Aged
- Mutation
- NAV1.5 Voltage-Gated Sodium Channel