Genetics and Epilepsy

• 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.)