Targeted gene under study

OMIM # 620028


Biallelic variants in UFSP2 have recently been associated with recessive developmental and epileptic encephalopathy from studying a small group of patients with limited clinical details. In the last 15 months, we have collected a large cohort of patients with biallelic variants, mainly a recurring homozygous missense variant VAL115GLU. Patients exhibit variable global developmental delay/intellectual disability, infantile seizures, abnormal movements, microcephaly and brain malformations. Our main aim of this study is to further delineate the molecular and clinical features of the UFSP2-disorder and better understand its disease mechanism using patient-derived cells, animal model and in-vitro assays.

Coordinating clinicians/researchers

Dr. Reza Maroofian –


The UCL Queen Square Institute of Neurology

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