Regarding the diagnosis, 15.4% were affected by Pyridoxine-dependent epilepsy (PDE), 23.1% by Molybdenum-Cofactor Deficiency (MCD), 15.4% by infantile Neuronal Ceroid Lipofuscinosis (CLN10), 30.8% by hypophosphatasia (HYPOPH), and finally 15.4% were affected by GLUT1-Deficiency Syndrome (GLUT1-DS). The gene discussed is SLC2A1; the disease is infantile neuronal ceroid lipofuscinosis.