What puts someone at risk for developing drug-resistant epilepsy? Is there a change in an individual’s DNA (known as a genetic mutation) that can lead to drug-resistant epilepsy? To help us answer these questions and understand the complex genetics, the EpLink Genetics Program was started.

This program will conduct whole genome sequencing (DNA testing) of patients with epilepsy, which will help to: (1) uncover genes that may be responsible for drug-resistant epilepsy; (2) develop and test a resource that can help with diagnosis of drug-resistant epilepsy; and (3) better understand the ethical issues and economic impact related to genetic testing.

Through this program, we can better understand why people develop drug-resistant epilepsy and design therapies to target these genetic changes. To do so, this project is leveraging a Genome Canada grant and partnering with groups in the European Union and United States.

Dr. Berge Minassian and his colleagues plan to start genetic testing in people with epilepsy – both children and adults – to identify genes that may be responsible for putting certain individuals at higher risk for developing drug-resistant epilepsy.

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