Targeted gene under study

UGP2 (OMIM # 191760), Developmental and epileptic encephalopathy 83/ Barakat-Perenthaler syndrome (OMIM #618744)


We previously described a severe autosomal recessive epileptic encephalopathy caused by a founder mutation in UGP2, which causes the start-loss of the short UGP2 isoform (PMID: 31820119). So far, we have identified the same variant in >40 individuals world-wide. We are calling for more individuals with the same founder variant or potentially other bi-allelic variants in UGP2, to further delineate the clinical phenotype of this disorder. We are also performing several lines of functional studies to explore options for therapy development.

Coordinating clinicians/researchers

Dr. Stefan Barakat –


Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands

Specific requirements beyond clinical data and genotype data sharing:

  • Re-analysis of DNA samples: No
  • Resampling of patients: No
  • Linked to a translational/basic research project: Yes