Altération de la migration des interneurones GABAergiques dans les encéphalopathies épileptogènes


Lara Eid

Centre de recherche du CHU Sainte-Justine


Domaine : Neurosciences, santé mentale et toxicomanies


Concours 2017-2018


Fondation des Étoiles

Epileptic encephalopathies (EE) are severe early-onset neurodevelopmental disorders characterized by refractory epilepsy and intellectual disability, which remained of unknown etiology in 40-50% of cases until recently. The advent of Next Generation Sequencing has allowed the identification of new candidate genes expressed during brain development, which could be involved in the mechanisms regulating cellular migration. This study aims at characterizing the cellular and molecular mechanisms involved in the development of epilepsy associated with these new genes. We will study the role of MYO9B in the development and migration of brain inhibitory neuronal populations (GABAergic interneurons) in mice.

The results generated by this study will allow a better comprehension of the mechanisms involved in the development of epilepsy and associated cognitive disorders in this neurodevelopmental genetic disease affecting young children. Expanding our knowledge of this subject will be essential to the elaboration of new treatments for children with genetic forms of EE. For instance, this may lead to the development of personalized medicine in epilepsy including new selective drugs targeting interneurons or transplants of interneuron precursors. Such improved therapies should result in real improvements in the neurological outcome of these patients.