The genetic abnormalities involved ATP6V0C and other genes such as AMDHD2, CEMP1, PDPK1, and TBC1D24. Two of the genes were suspected to be pathogenic, including PDPK1 that was categorized as a highly constrained gene due to the pLI score > 0.95 (Samocha et al., 2014; Feng et al., 2019) and TBC1D24 that had an established association with epilepsy (Duru et al., 2010; Falace et al., 2010; Luthy et al., 2019). The gene discussed is AMDHD2; the disease is epilepsy.