Article
hiPSC-derived cardiomyocytes from Brugada Syndrome patients without identified mutations do not exhibit clear cellular electrophysiological abnormalities.
Scientific reports - 3 Aug 2016
Veerman Christiaan C, Mengarelli Isabella, Guan Kaomei, Stauske Michael, Barc Julien, Tan Hanno L, Wilde Arthur A M, Verkerk Arie O, Bezzina Connie R
Abstract excerpt
Brugada syndrome (BrS) is a rare cardiac rhythm disorder associated with sudden cardiac death. Mutations in the sodium channel gene SCN5A are found in ~20% of cases while mutations in other genes collectively account for <5%. In the remaining patients the genetic defect and the underlying pathogenic mechanism remain obscure. To provide insight into the mechanism of BrS in individuals without identified mutations,...
Topics
- Brugada Syndrome
- Female
- Genome-Wide Association Study
- Humans
- Induced Pluripotent Stem Cells
- Male
- Mutation
- Myocytes, Cardiac
- NAV1.5 Voltage-Gated Sodium Channel