Neuronal model of genetic focal epilepsy
| Title | Neuronal model of genetic focal epilepsy |
|---|---|
| Acronym | EP-IPSCs |
| Start date | 2017-02-01 |
| End date | 2020-11-30 |
| Sponsor | European Research Council - Consolidator Grant (ERC-CoG) |
| Institution | Institut du Cerveau (ICM) |
Associated cell lines
- INSRMi001-A
- INSRMi002-A (PC117_c2)
- INSRMi003-A (PC128_c5)
- INSRMi004-A (PC118_c7)
- INSRMi005-A (PC119_c7)
- INSRMi006-A (PC131_c8)
- INSRMi007-A (pc132-c4)
Project Description
In cortical neurons derived from hiPSCs of patients, we will aim to (1) examine the effects of DEPDC5 mutations on the mTORC1 signaling pathway, neurodevelopment and neuronal excitability; (2) test whether heterozygous DEPDC5 mutations suffice to trigger mTORC1-dependant defects; (3) ask whether either traditional AEDs or rapamycin-derived molecules can rescue the neuronal phenotype.