Article
A Brugada syndrome mutation (p.S216L) and its modulation by p.H558R polymorphism: standard and dynamic characterization.
Cardiovascular research - 1 Sept 2011
Marangoni Stefano, Di Resta Chiara, Rocchetti Marcella, Barile Lucio, Rizzetto Riccardo, Summa Aurora, Severi Stefano, Sommariva Elena, Pappone Carlo, Ferrari Maurizio, Benedetti Sara, Zaza Antonio
Abstract excerpt
AIMS: The Na(+) channel mutation (p.S216L), previously associated with type 3 long-QT syndrome (LQT3) phenotype, and a common polymorphism (p.H558R) were detected in a patient with an intermittent Brugada syndrome (BS) ECG pattern. The study was aimed to assess the p.S216L electrical phenotype, i...
Topics
- Adult
- Brugada Syndrome
- Cardiac Conduction System Disease
- Child
- Electrocardiography
- Female
- Humans
- Long QT Syndrome
- Male
- Mutation
- NAV1.5 Voltage-Gated Sodium Channel
- Patch-Clamp Techniques
- Phenotype
- Polymorphism, Genetic