In accord with this, a heterozygous de novo mutation in the gene encoding NACC1 (NACC1, NM_052876.3: c.892C > T, NP_443108.1; p.Arg298Trp, referred here as NACC1-R298W for simplification purpose) was recently identified by whole-exome sequencing in eight unrelated individuals with a neurodevelopmental disorder characterized by severe intellectual and developmental disability, epilepsy, and abnormal brain morphology (Schoch et al., 2017; Lyu et al., 2021). This evidence concerns the gene NACC1 and developmental disability.