Telethonin variants found in Brugada syndrome, J ‐wave pattern ECG, and ARVC reduce peak Nav1.5 currents in HEK‐293 cells

ConclusionsWe found twoTCAP variants in the patients with BrS, J ‐wave pattern ECG, and ARVC that can cause loss‐of‐function of the hNav1.5 in heterologous expression systems. Our observation suggests that these variants might impair INa and be associated with the patients ’ electrophysiological phenotypes. Further studies linking our experimental data to clinical phenotypes are warranted.

Source: Pacing and Clinical Electrophysiology : PACE - July 6, 2020 Category: Cardiology Authors: Isik Turker, Takeru Makiyama, Takeshi Ueyama, Akihiko Shimizu, Masaru Yamakawa, Peng ‐Sheng Chen, Matteo Vatta, Minoru Horie, Tomohiko Ai Tags: ELECTROPHYSIOLOGY Source Type: research