Ms. Mahoney said the gene mutation they identified results in a severe form of epilepsy characterized by numerous seizures and developmental delay in children.
“We’ve identified new neuro-psychiatric features in an extended family with epilepsy,” said Dr. Moore. “By knowing the mutation we can give information to the family about the causes of their epilepsy, and also provide carrier testing.”
The discovery will also result in optimizing treatment through better drug treatment.
Ms. Mahoney has done two presentations on this discovery, most recently at the Atlantic Medical Genetics and Genomics Initiative conference in Halifax. Last November she presented a poster on this gene mutation at the Canadian Human Genetics Conference in Montreal.
“This knowledge has been widely shared,” she said. “I am now in the process of writing a second paper on the clinical epidemiology of epilepsy, as well as writing my doctoral thesis.”
Dr. Moore and Dr. Patrick Parfrey are co-supervisors of Ms. Mahoney. Other authors of the paper on the new epilepsy gene mutation are Drs. David Buckley, Muhammad Alam, Patrick Parfrey, Sharon Penney, Nancy Merner, Kathy Hodgkinson and Terry-Lynn Young, all of the Faculty of Medicine at Memorial.