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Epilepsy Genetics: Transforming Clinical Practice - Annual Fundamentals Symposium 2017

This symposium will address the current state of genetic testing in epilepsy. We will review which populations of patients with epilepsy warrant genetic testing based on high yield of a genetic diagnosis, as well as potential for treatment modification. We will discuss which types of tests can and should be sent, as well as factors important for clinicians to know to inform pre- and post- test discussions with patients (or their parents). Two speakers will delve into some of the pediatric developmental epilepsies as well as focal epilepsies as examples to illustrate the above concepts. The final talk will discuss the promise of precision medicine with a word of caution that we must carefully weigh available evidence and consider risks and benefits of all treatments.

Following participation in this activity, learners should be able to:

  • Recognize which patients with epilepsy should undergo genetic testing
  • Distinguish which tests evaluate for which types of genetic abnormalities
  • Identify when patients should be referred for consultation to others with particular knowledge and expertise in genetics and neurogenetics, including genetic counselors
  • Restate the developmental and epileptic encephalopathies with a focus on the sodium channelopathies such as Dravet syndrome (previously called Severe Myoclonic Epilepsy of Infancy), and which treatments are recommended to be used vs. those to be avoided
  • List the genes implicated in the focal epilepsies and discuss their association with malformations such as focal cortical dysplasia
  • Discuss the promise of precision medicine and describe the clinician’s responsibility to critically evaluate each patient’s data and available data regarding treatments
Neurologists, epileptologists, pediatric neurologists, nurses, psychologists/neuropsychologists, nurse practitioners/physician assistants, genetic counselors

Co-chairs: Annapurna Poduri, M.D. and Ingrid Scheffer, M.B.B.S., Ph.D.