The UBE3A variants are associated with AS, autism spectrum disorder, epileptic encephalopathy and other neurodevelopmental disorder (Ali et al., 2020; Papuc et al., 2019; Rossi et al., 2017) and 253 different variants of the UBE3A gene have been reported (204 variants for AS; 49 variants for others) in HGMD (Figure 3b). The gene discussed is UBE3A; the disease is neurodevelopmental disorder.