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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 effects of the mutations on the function of the sodium channel were evaluated with heterologous expression in TSA201...

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Identifiers

PMID: 17075016
DOI: 10.1161/CIRCULATIONAHA.106.627489
PMCID: PMC1989773

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