Trafficking and Gating Cooperation Between Deficient Nav1.5-mutant Channels to Rescue INa.

Abstract excerpt

BACKGROUND: Pathogenic variants in SCN5A, the gene encoding the cardiac Na+ channel α-subunit Nav1.5, result in life-threatening arrhythmias, e.g., Brugada syndrome, cardiac conduction defects and long QT syndrome. This variety of phenotypes is underlied by the fact that each Nav1.5 mutation has unique consequences on the channel trafficking and gating capabilities. Recently, we established that sodium channel...

Topics

• Animals
• Arrhythmias, Cardiac
• Brugada Syndrome
• HEK293 Cells
• Humans
• Mutation
• Myocytes, Cardiac
• NAV1.5 Voltage-Gated Sodium Channel
• Rats