Patients with ARV1 gene mutation present with several clinical manifestations including developmental milestone delay, intellectual disability, epileptic encephalopathy of infantile onset, hypotonia, ataxia, ophthalmological manifestations (visual impairment, retinal dystrophy), hearing loss, skeletal dysplasia, and dilated cardiomyopathy [4-8]. The gene discussed is ARV1; the disease is Epileptic encephalopathy.