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Article

Expression and Intracellular Localization of an <b> <i>SCN5A</i> </b> Double Mutant R1232W/T1620M Implicated in Brugada Syndrome

11 Jan 2002

Abstract excerpt

Brugada syndrome is an inherited cardiac disorder caused by mutations in the cardiac sodium channel gene, SCN5A, that leads to ventricular fibrillation and sudden death. This study reports the changes in functional expression and cellular localization of an SCN5A double mutant (R1232W/T1620M) recently discovered in patients with Brugada syndrome. Mutant and wild-type (WT) human heart sodium channels (hNa(v)1.5)...

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PMID: 11786511
DOI: 10.1161/hh0102.102977

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