NUS1 and congenital disorder of glycosylation: NUS1 is a relevant gene in multiple diseases, such as epilepsy and congenital glycosylation disorder, and its variants may cause a range of disease manifestations (Szafranski et al., 2015; Hamdan et al., 2017; Guo et al., 2018; Araki et al., 2020; Wirth et al., 2020; Courage et al., 2021; Fraiman et al., 2021; Gunzler and DeBrosse, 2021; Haginoya et al., 2021; Yu et al., 2021; Zhang et al., 2021; Monfrini et al., 2022; Ji et al., 2023).