Approximately 30 per cent of patients with epilepsy do not respond to anti-epileptic drugs. In these cases, all neurologists can do is attempt to find the right combination of medication through trial and error. A treatment that could target the root cause of epilepsy is a beacon of hope for these patients. But identifying the cause of the pathology is no easy feat. "There are many genes involved," said Jacques Michaud, pediatrician at CHU Sainte-Justine and Professor of Pediatrics and Neuroscience at the Faculty of Medicine of Université de Montreal. "Each child can have different genetic mutations. Often the clinical symptoms do not clearly reflect the cause of epilepsy, which makes choosing the right treatment more difficult."
A recent study by Michaud examining 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. This extensive research project was piloted by Michaud and his colleagues, Elsa Rossignol and Patrick Cossette of Universite de Montréal and Berge Minassian of the University of Toronto. The team identified eight new genes involved in this type of epilepsy thanks to their use of whole-genome sequencing, which had never been done before in an epileptic study of this scope. The results of their study were recently published in the American Journal of Human Genetics
. "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 Michaud.
Read more at EurekAlert