Taken together with the role of dopamine signaling in epileptogenesis [54], we hypothesize that the observed features of epilepsy and DD in this patient, might be associated with the de novo dinucleotide variant in SYN3. Finally, we identified de novo missense variants in ATAD3A (MIM 617183) and EMC1 (MIM 616875) and additional collaborative efforts supported these as disease genes with both monoallelic and biallelic pathogenic variants [20, 22]. Here, EMC1 is linked to epilepsy.