Heterozygous NUS1 pathogenic variants have been linked to autosomal dominant intellectual disability type 55 with seizures (OMIM # 617831) (Park et al., 2014; Li et al., 2024), complex dystonia, cerebellar ataxia, tremors, epileptic and developmental encephalopathies, Parkinson’s disease (PD), and PME (Courage et al., 2021; Zimmern and Minassian, 2024; Yu et al., 2021; Li et al., 2024), underscoring the gene’s critical role in the neuronal and neuromuscular systems. The gene discussed is NUS1; the disease is Progressive myoclonic epilepsy.