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 et de la Moelle (ICM)

Associated cell lines

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.