Brugada syndrome disease phenotype explained in apparently benign sodium channel mutations.

Abstract excerpt

BACKGROUND: Brugada syndrome (BrS) is an arrhythmogenic disorder that has been linked to mutations in SCN5A, the gene encoding for the pore-forming α-subunit of the cardiac sodium channel. Typically, BrS mutations in SCN5A result in a reduction of sodium current with some mutations even exhibiting a dominant-negative effect on wild-type (WT) channels, thus leading to an even more prominent decrease in current...

Topics

• Animals
• Brugada Syndrome
• Cells, Cultured
• Electrocardiography
• Genotype
• Humans
• Mutation, Missense
• Myocytes, Cardiac
• NAV1.5 Voltage-Gated Sodium Channel
• Phenotype
• Rats