Multiple mechanisms underlie increased cardiac late sodium current

We recently reported a quantitative relationship between the degree of functional perturbation reported in the literature for 356 variants in the cardiac sodium channel gene SCN5A and the penetrance of resulting arrhythmia phenotypes. In the course of that work, we identified multiple SCN5A variants, including R1193Q, that are common in populations but are reported in HEK cells to generate large late sodium current (lNa-L). Objective: To compare the functional properties of R1193Q to those of the well-studied LQT3 mutation ΔKPQ.

Source: Heart Rhythm - January 21, 2019 Category: Cardiology Authors: Brett M. Kroncke, Tao Yang, Dan M. Roden Source Type: research