Genotype and phenotype analysis of epilepsy caused by ADGRV1 mutations in Chinese children

ADGRV1 (previously known as GPR98, MASS1, or VLGR1) (OMIM 602851) encodes the adhesion G protein-coupled receptor (aGPCR) V1, which is a large calcium-binding protein widely expressed in the central nervous system. ADGRV1, the largest aGPCR, binds to Gi and signals to protein kinases A and C via Gq and Gs. The function of ADGRV1 has not been determined, but multiple calcium exchanger b-repeats in the ectodomain suggest a contribution to calcium-mediated protein-protein interactions1. The pathogenesis of the ADGRV1 variants that leads to seizures remains unclear.