Article
Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome.
International heart journal - 1 Jan 2011
Nakajima Tadashi, Kaneko Yoshiaki, Saito Akihiro, Irie Tadanobu, Tange Shoichi, Iso Tatsuya, Kurabayashi Masahiko
Abstract excerpt
Mutations in SCN5A are linked to Brugada syndrome in approximately 20% of all cases (BrS1). Several dozen distinct SCN5A mutations in BrS1 have been associated with the increased risk of cardiac arrhythmias. However, the genotype-phenotype relationship remains elusive. The current study analyzed the SCN5A gene to elucidate the potential variability of clinical features in Japanese BrS1 subjects. Subjects of the...
Topics
- Adult
- Asian People
- Brugada Syndrome
- Female
- Genotype
- Humans
- Japan
- Male
- Middle Aged
- Muscle Proteins
- Mutation
- Mutation, Missense
- NAV1.5 Voltage-Gated Sodium Channel
- Phenotype
- Prevalence
- Sodium Channels