Developmental and epileptic encephalopathy-38 (DEE38) is caused by pathogenic variant in ARV1 and is inherited in an autosomal recessive manner. ARV1 variants are associated to significant reduced expression of GPI-anchored proteins. A few cases have been reported and were characterized by early onset of epilepsy, status epilepticus, hypotonia, global development delay and visual impairment.
ARV1