Elucidating the pathogenicity of genetic variants of uncertain significance in Brugada syndrome patients by functional modelling in hiPSC-derived cardiomyocytes and zebrafish. University of Antwerp
Medical Genetics (MEDGEN), Experimental Neurobiology Unit (ENU), Molecular, Cellular and Network Excitability (MCNE), Veterinary physiology and biochemistry, Aarhus University, Medical Genetics (MEDGEN)
Brugada syndrome (BrS) is an inherited arrhythmic disorder and is estimated to account for up to 12% of all sudden cardiac death cases, especially in the young (< 40 years old). Only in circa 30% of BrS patients the underlying genetic cause can be identified with current diagnostic arrhythmia gene panels. Moreover, the use of these panels result in detection of numerous genetic "Variants of Uncertain Significance" (so called VUS), but ...