Genetics and Epilepsy (Fall)

• 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 

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

How do the genetic results guide my treatment options?

• Recognize the benefits of both positive and negative test results in the management of epilepsy
• Discuss the treatment implications of positive results in those tested with the “actionable” gene panel
• Describe other non-genetic tests that can be offered to individuals suspected of an actionable gene mutation
• Identify the benefits of research studies in epilepsy treatment

*Available after sessions starts