Overexpression of human antiquitin in E. coli: Enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy

► Deleterious effects of 12 missense mutations on enzymatic activity of antiquitin confirmed. ► Automated enzyme assay for antiquitin described. ► Recombinant lysine aminotransferase used to prepare natural substrate for antiquitin.