To date, several reports exist about the pathogenic genetic variants affecting the HNRNPU gene in individuals with HNRNPU-related disorder, and are mostly de novo loss-of-function variants at sequence or copy number level (Brunet et al., 2021; Durkin et al., 2020; Gillentine et al., 2021; Wang et al., 2020). Here, HNRNPU is linked to developmental and epileptic encephalopathy, 54.