Characterization of a novel SCN5A mutation associated with Brugada syndrome reveals involvement of DIIIS4–S5 linker in slow inactivation

摘要

Objective Mutations in SCN5A, the gene encoding the α-subunit of the cardiac sodium channel (Na_v1.5), have been associated with various inherited arrhythmia syndromes, including Brugada syndrome (BrS). Here, we report the functional consequences of a novel missense SCN5A mutation, G1319V, identified in a BrS patient. The G1319V mutation is located in the loop connecting transmembrane segments 4 and 5 in domain III (DIIIS4–S5), a region so far considered to be exclusively involved in fast inactivation.