Uridine monophosphate (UMP)-responsive developmental and epileptic encephalopathy: A case report of two siblings and a review of literature.

Developmental and epileptic encephalopathy type 50 is an autosomal recessive disorder caused by pathogenic variants in . This gene encodes a multifunctional enzyme involved in the initial steps of pyrimidine synthesis. Uridine treatment has been shown to be effective in this disease.