Article
Sodium channelopathies: do we really understand what's going on?
Journal of cardiovascular electrophysiology - 1 May 2011
Postema Pieter G, Mosterd Arend, Hofman Nynke, Alders Marielle, Wilde Arthur A M
Abstract excerpt
Long-QT syndrome, Brugada syndrome, and conduction disease may be caused by mutations in the cardiac sodium channel gene SCN5A, and from the ECG one can already presume either a gain- or a loss-of-function defect. We describe a family harboring 2 SCN5A mutations: the ΔKPQ mutation, the "classical...
Topics
- Aged
- Brugada Syndrome
- Diagnosis, Differential
- Electrocardiography
- Female
- Genetic Predisposition to Disease
- Heterozygote
- Humans
- Long QT Syndrome
- Male
- Middle Aged
- NAV1.5 Voltage-Gated Sodium Channel
- Polymorphism, Single Nucleotide
- Sodium Channels