Identification des gènes et des mécanismes moléculaires qui prédisposent aux épilepsies idiopathiques

Chercheurs-boursiers cliniciens- Senior | Concours 2012-2013

Patrick Cossette

Centre de recherche du CHUM


Domaine : Neurosciences, santé mentale et toxicomanies

Epilepsy is a common neurological disease affecting approximately 300,000 Canadians. Almost half of the new cases are children. With the anti-epileptic drugs that are currently available, up to 30% of individuals with epilepsy still have uncontrolled seizures despite adequate treatment. For many others, the medication will achieve control of the seizures, but with significant side-effects, impairing their quality of life. The objective of the proposed work is to identify genes that predispose to epilepsy, and to determine how mutations in these genes lead to the disease. For this purpose, we will use innovative methodological approaches notably whole-genome Next-Generation sequencing. By using a combination of experimental approaches, we will also determine how mutations in GABA-A receptors alter the development of neural networks. The identification of predisposing genes and molecular mechanisms underlying epilepsy will allow a better understanding of the disease. These findings will eventually facilitate the design of more specifically targeted drugs to treat this chronic and disabling disease.