A promising Treatment of WWOX Associated Neurological Disorders
| Title | A promising Treatment of WWOX Associated Neurological Disorders |
|---|---|
| Acronym | WWOXAID |
| Start date | 2020-01-01 |
| End date | 2023-01-01 |
| Sponsor | Horizon 2020 (H2020) |
| Institution | Hebrew University of Jerusalem |
Associated cell lines
Project Description
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28; EIEE28 or WWOX-related epileptic encephalopathy (WOREE) syndrome is a very severe epileptic encephalopathy characterized by absence of language development and acquisition of walking, early-onset drug-resistant seizures, ophthalmological involvement, and a very high likelihood of premature death. The disease is caused due to an autosomal recessive germline mutation in WW domain-containing oxidoreductase (WWOX) gene. The project aims to generate iPSC lines from EIEE28 patients and their parents [as control] and use them for evaluating treatment purposes.