ATP6V0A1 and developmental and epileptic encephalopathy: To further explore the pathophysiology of DEE caused by ATP6V0A1 variants, we generated mutant mice models harboring a human A512P variant (A506P in mice; NCBI reference number NP_058616.1) and a human R741Q variant (R741Q in mice), using the CRISPR-Cas9 genome editing and electroporation method (Supplementary Fig. 3)14.