Furthermore, many pediatric monogenetic diseases characterized by neurological pathologies have yet to progress to clinical trials due to various obstacles, such as primary mitochondrial disorders, fragile X syndrome, Angelman syndrome, SLC13A5 deficiency disorder, SLC6A1-related disorder, tuberous sclerosis, and CDKL5 deficiency disorder. The gene discussed is SLC6A1; the disease is Angelman syndrome.