Génome Québec congratulates Dr. Jacques Michaud from the CHU Sainte-Justine who led the study with other researchers including Dr. Patrick Cossette from Université de Montréal. The study led to the identification of eight new epilepsy genes, thanks to the use of whole-genome sequencing, which had never been done before in an epileptic study of this scope.

The results of their study of 200 children with epileptic encephalopathy – epilepsy combined with intellectual or overall developmental disability – and their parents, could lead to the development of a more rational anti-epileptic treatment strategy

“By learning about the pathophysiology of the genes involved, we hope to move towards a more appropriate treatment and decrease the amount of time spent on cumbersome medical assessments,” said Dr. Michaud.

To read the press release from CHU Sainte-Justine, click here.

To read the publication in The American Journal of Human Genetics, click here.