Targeted gene under study
UGP2 (OMIM # 191760), Developmental and epileptic encephalopathy 83/ Barakat-Perenthaler syndrome (OMIM #618744)
Abstract
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 – t.barakat@erasmusmc.nl
Institution
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