Targeted sequencing of the six SETBP1 exons (NM_015559.3) in 656 individuals, 600 with NDDs and 56 with epilepsy, allowed to identify a total of 19 variants with allelic frequency <0.0002 in the GnomAD database (one frame shift deletion, one stop gain, nine missense, six synonymous, and two intronic variants). This evidence concerns the gene SETBP1 and epilepsy.