About 70% of epilepsies have a genetic basis. Some are single‐gene epilepsies, some have a polygenic etiology, while others have genetic modifying factors. So far, only 15% of genes associated with epilepsy have been identified. Thus, epilepsy is in large part a genetic disease, and future treatments for epilepsy could involve corrective genetic modification. Using CRISPR/Cas9 technology, it is now possible to modify the genome of living organisms. Overactive genes can be deleted and mutations of genes causing loss of function can be corrected.

Our genetics platform involves research designed to identify new genes that cause epilepsy in humans, and to understand and reverse the genetic and epigenetic factors that contribute to epilepsy. The goal is to discover new genetic/genomic/epigenetic causes of drug-resistant epilepsies and to develop stem cell and animal models of epilepsy caused by the genes that are identified, in order to test the best treatment options for these epilepsies.

Epigenetics is the study of how genes can be switched on or off by changes to DNA (deoxyribonucleic acid) that keep the gene code intact. It is clear that epigenetic factors also contribute to epilepsy, and it is possible that these may also be addressed and reversed. Our epigenetics research study aims to identify which genes may be turned off or on by the addition of methyl groups, how this affects the patterns of gene activity and how this may play a role in drug-resistant epilepsy.

The identification of genes that contribute to epilepsy began in Phase 2 and continues in Phase 3. All clinical sites and studies in Phase 3 will contribute samples for genetic testing, creating a large pool of genetic data for analysis.

Research Activities:

  1. Identification of genes that lead to epilepsy. DNA of patients with epilepsy will be studied through whole genome sequencing, which will lead to identification of new genes causing epilepsy.
  2. Understanding how epigenetics contribute to epilepsy: this will be done by RNA (ribonucleic acid) expression and epigenetic analyses of brain tissue of patients with epilepsy (removed during epilepsy surgery).
  3. Develop stem cells and mouse models based on genes identified in patients through Activity 1. The stem cell lines will be differentiated into neurons to allow in vitro screening of anti-seizure drugs.

Recruitment Status:

Enrolling by Invitation

Participating Sites

Children's Hospital of Eastern Ontario
Hamilton Health Sciences Centre

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