The latter could provide a targeted therapy for a severe epileptic encephalopathy caused by a recurrent mutation in UGP2 (Barakat–Perenthaler syndrome, OMIM# 618744), in which the shorter UGP2 isoform is not expressed in brain due to the mutation, and up-regulation of the longer UGP2 isoform which is normally absent from brain could potentially result in a therapy [101]. The gene discussed is UGP2; the disease is developmental and epileptic encephalopathy, 83.