Genetics and Epilepsy


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 sessions.


  • Discuss basic genetic concepts, differences between common tests and recognize that epilepsy can be a genetic condition
  • Identify the clinical criteria for genetic testing in epilepsy and specifically an Epilepsy Gene Panel based on current Ontario Guidelines
  • Describe the process of genetic testing, as well as potential results that may return (inc VUS)
  • Identify which patients do not meet the criteria for epilepsy genetics testing and when to refer to Genetics

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

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)

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

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
  • 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.
  • Discuss which phenotypes warrant ordering a Comprehensive epilepsy gene panel

How do the genetic results guide my treatment options?

  • Discuss the treatment implications of positive results in those tested with the “actionable” gene panel
  • Identify the benefits of research studies in epilepsy treatment
  • Discuss which genetic epilepsy syndromes have treatment indications that are unique or specific to the genetic diagnosis
  • Provide further detail on specific treatment options (example the ketogenic diet for SLC2A1 deficiency, avoidance of Na channel blockers in Dravet, quinidine for KCNT1 etc.)

Clinical Leads

Lysa Boisse Lomax, MD, MSc, CSCN

Co-Lead, Adult Clinical

Kevin Jones, MD

Medical Co-Lead

Dr. Tugce Balci, Clinical Geneticist

Tugce Balci, MD

Clinical Geneticist

David Dyment, DPhil, MD, FRCPC

Clinical Investigator

Stacy Hewson, MSc, MSc, CCGC, CGC

Genetics Counsellor