Genetics and Epilepsy

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Epilepsy genetics continues to rapidly evolve with growing implications for clinical practice. This series provides updated perspective of epilepsy genetics including such topics as epileptic encephalopathies, clinical criteria for genetic testing, genetic test panel selection, interpretation of results, and genetic counselling.

Note: To receive a Certificate of Completion practitioners must complete all seven (7) sessions concurrently (per series). Additionally, Ontario licensed physicians who acknowledge completion of our accredited Project ECHO Genetics curriculum will be able to order genetic testing for epilepsy patients through The Ontario Epilepsy Genetic Testing Program (OEGTP), (requisition form found on their webpage).

Case Support

Healthcare providers can present your de-identified case for advice, support and written recommendations.

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Syllabus

CPD Accreditation (CPSO, U of T)

This Group Learning program meets the certification criteria of the College of Family Physicians of Canada and has been certified by Continuing Professional Development, Faculty of Medicine, University of Toronto for up for up to 1.0 Mainpro+ credits.

This event is an Accredited Group Learning Activity (Section 1) as defined by the Maintenance of Certification Program of the Royal College of Physicians and Surgeons of Canada, approved by Continuing Professional Development, Faculty of Medicine, University of Toronto. You may claim a maximum of 1.0 hours.

Clinical Criteria for Genetic Testing

Recognize when it is appropriate to order an Epilepsy Gene Panel based on current Ontario Guidelines

Identify the clinical criteria for consideration of genetic testing

Determine the relevant clinical phenotypes, EEG and imaging features, and salient family history that suggest Genetic Testing is indicated

Identify which patients do not meet the criteria for epilepsy genetics testing

Requisition process and performance & service standards

I want to order genetic testing…now what?

Identify key points to consider before ordering genetic testing
Identify issues to discuss in pre-test counselling e.g. consent, potential results and outcomes, parental testing
Determine information required for ordering, selecting the right panel and filling the requisition

Genetic counseling: pre- and post-test counselling, clinical management, follow-up

I have received the results of genetic testing…now what?

Recognize variant classification and what they mean
Identify tools and processes for clarification of results (variants of uncertain significance, false negatives, false positives, parental testing)
Identify considerations for post-test counselling (management changes, recurrence risk assessment and further referrals)

Epilepsy Gene Panel Selection | Part I

Focal Epilepsy, Progressive Myoclonic Epilepsy, Comprehensive Panel

Recognize electroclinical epilepsy syndromes due to genes detected by the Familial Focal Epilepsies, the Progressive Myoclonus Epilepsies and the Comprehensive Epilepsy Gene Panel

Epilepsy Gene Panel Selection | Part II

Early Infantile Epileptic Encephalopathy, and Childhood-onset Epilepsy,

Recognize electroclinical epilepsy syndromes due to genes detected by the Early Infantile Epileptic Encephalopathy and Childhood Onset Epilepsy panels

Epilepsy Gene Panel Selection | Part III

Determine when to order the Actionable/ STAT gene panel for potentially treatable epilepsy conditions
Identify structural brain malformations detected on neuroimaging with a genetic basis

Exomes and Genomes

Practice Tips in Epilepsy Genetics according to the New Ontario Guidelines for Genome-wide Sequencing

Discuss the new guidelines around GWS in Ontario, the new expanded criteria and eligible ordering providers
Identify the main differences in consenting (primary vs secondary findings), ordering and interpreting GWS vs multigene sequencing in epilepsy and identify the advantages and limitations of GWS
Recognize the ethical, insurance-related and other concerns specific to GWS
Discuss the local implications of this new genetic care delivery models.