Article
Compound heterozygous mutations P336L and I1660V in the human cardiac sodium channel associated with the Brugada syndrome.
Circulation - 7 Nov 2006
Cordeiro Jonathan M, Barajas-Martinez Hector, Hong Kui, Burashnikov Elena, Pfeiffer Ryan, Orsino Anne-Marie, Wu Yue Sheng, Hu Dan, Brugada Josep, Brugada Pedro, Antzelevitch Charles, Dumaine Robert, Brugada Ramon
Abstract excerpt
BACKGROUND: Loss-of-function mutations in SCN5A have been associated with the Brugada syndrome. We report the first Brugada syndrome family with compound heterozygous mutations in SCN5A. The proband inherited 1 mutation from each parent and transmitted 1 to each daughter. METHODS AND RESULTS: The...
Topics
- Brugada Syndrome
- Genetic Carrier Screening
- Humans
- Isoleucine
- Leucine
- Muscle Proteins
- Mutation
- NAV1.5 Voltage-Gated Sodium Channel
- Pedigree
- Phenotype
- Proline
- Sodium Channels
- Valine