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]. Here, UGP2 is linked to Epileptic encephalopathy.