Table S1. Genes in panel. Genes tested in the 30-gene NGS panel. Variants in genes indicated with an asterisk (*) were not evaluated by the machine learning model because only large copy number varian
The voltage-gated Na+ channel regulates the initiation and propagation of the action potential in excitable cells. The major cardiac isoform NaV1.5, encoded by SCN5A, comprises a monomer with four hom
Background: Type 2 long QT syndrome (LQTS) is a sudden cardiac death related genetic disease. We tried to find the potential gene mutation in the type 2 LQTS pedigree.Material and methods: Genomic DNA
We utilized humanized wild-type and R14 deletion (R14del) phospholamban (PLN) knock-in mice to determine the role of the inherited PLN-R14del on malignant right ventricular arrhythmias. Overall design
