Malorie Blancard, Amal Debbiche, Koichi Kato, Christelle Cardin, Guichard Sabrina, Estelle Gandjbakhch, Vincent Probst, Michel Haissaguerre, Fabrice Extramiana, Mélèze Hocini, Geoffroy Olivier, Antoine Leenhardt, Pascale Guicheney, Jean-Sébastien Rougier
Calcium regulation plays a central role in cardiac function. Several variants in the calcium channel Cav 1.2 have been implicated in arrhythmic syndromes. We screened patients with Brugada syndrome, short QT syndrome, early repolarisation syndrome, and idiopathic ventricular fibrillation to determine the frequency and pathogenicity of Cav 1.2 variants. Cav 1.2 related genes, CACNA1C, CACNB2 and CACNA2D1, were screened in 65 probands. Missense variants were introduced in the Cav 1.2 alpha subunit plasmid by mutagenesis to assess their pathogenicity using patch clamp approaches...
October 2, 2018: Scientific Reports