Genetics

Genetic contribution to epilepsy has been well known for many years. Evidence now suggests that ~ 20% of all epilepsy can be “genetic”. The rate increases in early-onset or drug-resistant epilepsies. The discovery rate of new epilepsy genes has not slowed down over the years and genetic testing is now standard of care. Importantly, several genetic epilepsies now have targeted treatments available.

Epilepsy can be part of a genetic syndrome with other systemic features, which when diagnosed, can also guide surveillance and treatment. Importantly, a genetic diagnosis can inform family planning decisions and offer insight into potential risks for other family members.

Genetic Testing

Genetic conditions can be diagnosed via a blood test, but access is hugely limited by awareness, expertise and interest. Ontario is fortunate to have an established system for epilepsy genetic testing, governed by a dedicated committee (Ontario Epilepsy Genetic Testing Program) and a centralized laboratory testing program, run out of London Health Sciences Centre.

As part of efforts to increase genetics literacy and access to care in Southwestern Ontario, our Genetics clinic has been integrating genetics care into both adult and pediatric epilepsy programs:

  • Comprehensive Epilepsy Clinic: The Comprehensive Epilepsy Clinic (CEC) offers coordinated care for children with drug-resistant epilepsy. The CEC facilitates advanced treatment options: epilepsy surgery, specialized medical and diagnostic managements, dietary and neuromodulatory treatments, integrated clinical assessments and transition to adult care. Since 2019, a novel, dedicated “genetic epilepsy” clinic has been implemented within CEC where a geneticist and a genetic counsellor offer patients comprehensive diagnostic genetic testing with appropriate counselling and post-diagnostic care planning.
  • Medical Genetics Program of Southwestern Ontario: Adults with epilepsy (especially if childhood-onset or with a family history) and children with epilepsy followed by neurologists outside of CEC can be referred to our genetics program for genetic assessment and testing.

Current Research Initiatives

  • Genetics Registry for the multi-disciplinary Comprehensive Epilepsy Clinic: The study objectives include evaluating the diagnostic yield of genetic testing in epilepsy, its impact on patient management (e.g., treatment, surgery, referrals), and identifying clinical predictors of positive results.
  • Genetic Evaluation of Pediatric Epileptic Brain Tissue: The study aims to assess the feasibility and yield of genetic and epigenetic testing of surgically resected epileptic brain tissue, explore how pathology and genetics impact presurgical diagnosis and postsurgical outcomes in pediatric epilepsy, and create a local "Epilepsy Biorepository" for future genomic research.