Targeted gene under study

BRAT1/ OMIM#614506


We have collected/identified >100 previously reported and not reported (new) affected individuals with biallelic pathogenic variants in the BRAT1 gene. We would like to identify more new patients with biallelic ultra-rare variants in BRAT1 and further delineate the phenotypic and genetic spectrum of the disorder. We would like to receive detailed clinical and genetic data, and skin biopsies if possible for functional studies.

Coordinating clinicians/researchers

Dr. Reza Maroofian –


Institute of Neurology, University College London, London, UK

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: No