Article
SCN5A(K817E), a novel Brugada syndrome-associated mutation that alters the activation gating of NaV1.5 channel.
Heart rhythm - 1 May 2016
Kinoshita Koshi, Takahashi Hiroyuki, Hata Yukiko, Nishide Kohki, Kato Mario, Fujita Hiroki, Yoshida Sho, Murai Kazutaka, Mizumaki Koichi, Nishida Kunihiro, Yamaguchi Yoshiaki, Kano Masanobu, Tabata Toshihide, Nishida Naoki
Abstract excerpt
BACKGROUND: Brugada syndrome (BrS) is an inherited lethal arrhythmic disorder characterized by syncope and sudden cardiac death from ventricular tachyarrhythmias. Here we identified a novel K817E mutation of SCN5A gene in a man with type 1 BrS electrocardiogram pattern using next-generation sequencing targeted for 73 cardiac disorder-related genes. SCN5A encodes the α-subunit of NaV1.5 voltage-gated Na(+)...
Topics
- Adult
- Asymptomatic Diseases
- Brugada Syndrome
- Electrocardiography
- Electrophysiologic Techniques, Cardiac
- Humans
- Male
- Mutation
- NAV1.5 Voltage-Gated Sodium Channel