The autosomal recessive mutations of CLN8 gene were related to two abnormal phenotypes: progressive epilepsy and mental retardation (EPMR), also known as Northern epilepsy syndrome [23] and a variant late-infantile neuronal ceroid lipofuscinoses (v-LINCL), characterized by earlier onset, faster progression of the disease with speech delayed, developmental delay and seizures [24, 25]. Here, CLN8 is linked to neuronal ceroid lipofuscinosis 8 northern epilepsy variant.