Genetic Testing in Epilepsy: Criteria for Adults and the Promise of New Treatments

Genetic testing has long been seen by medical professionals (doctors, insurance providers, etc.) as necessary only for pediatric epilepsy patients. However, despite physician reticence, access challenges, and limited information on certain variants, it is becoming increasingly more apparent that genetic testing in certain adult epilepsy patients can be just as beneficial.
In our previous webinar, viewers learned that genetic testing can help shorten a patient’s diagnostic odyssey, tailor specific treatment options to their type of epilepsy, assist in long-term outcome prediction, and aid in family risk and planning decisions. It is also widely believed that many adult patients, who due to their age couldn’t benefit from genetic testing as a child, could now get that long-awaited diagnosis by the ability to now identify certain genetic mutations in the more rare epilepsies. After viewing this webinar, attendees should be able to:
1. Identify which adult epilepsy patients who would benefit from clinical genetic testing.
2. Understand the types of clinical genetic tests available and how to interpret them.
3. Distinguish between clinical and research genetic testing and the value of being involved in research studies.
In addition to the information above, attendees will also hear from a person living with epilepsy who underwent genetic testing as an adult to learn more about their motivation, experience, and how it was beneficial to their overall health and well-being. This webinar is the second part of a two-part series in March that reflect CURE Epilepsy’s ongoing focus on epilepsy genetics and research in the rare epilepsies. Attendees will receive a link to view part 1 in an email to follow. Also, be sure to keep an eye out for the announcement of our April and May webinars coming shortly. Please see www.CUREepilepsy.org/webinars for more information on all of our webinars.
Speakers:
Gemma Carvill, PhD is an Assistant Professor in the Department of Neurology at Northwestern University in Chicago, IL. Her lab uses genomic technologies, machine learning and high-throughput functional assays to define the molecular basis of epilepsy, including coding and non-coding variants. Her group also uses patient-derived stem cell models to study how rare variants in genes involved in epigenetic mechanisms cause epilepsy. At Northwestern, Dr. Carvill co-directs the Adult Epilepsy Genetics Program with the goal of expanding neurogenetics research and facilitating genetic diagnoses for patients. She also works with colleagues in South Africa to develop strategies for increasing access to genetic testing, and building genetic epilepsy research in sub-Saharan Africa, to ensure that precision therapies benefit all individuals affected by epilepsy.
Elizabeth Gerard, MD is an Associate Professor in the Department of Neurology at Northwestern University in Chicago, IL. She is an adult epileptologist with clinical and research interests in the care of women with epilepsy and genetic diagnosis in adult patients with epilepsy. She also directs the Women with Epilepsy Program at Northwestern Medicine as well as a new Adult Epilepsy Genetics Clinic. Her research interests include gene discovery and variant interpretation in adult patients with epilepsy. I also study pregnancy and contraception in women with epilepsy. She is the site-PI of the MONEAD (maternal outcomes and neurodevelopmental effects of anti-epileptic drugs). Finally, she is also interested in the use and understanding of continuous EEG monitoring in the critically ill and am the site-PI for the Critical Care EEG Consortium.

[@carcrash6304]

Hello Doctor. Thank you so much for your videos. I have had epilepsy problem from 2016 when I was 25 years old. The seizure happened if I worked hard as a labor and seizure happened when I went to bed immediately. Now, it continues happen almost everyday even I take Phenobarbital every night. Is that health problem can be treated?

[@josephmolieri5439]

Sounds like you need more diagnostic testing and a doctor to help you find a better drug or combo of drugs. Check out ketogenic therapy for epilepsy. It’s tough to follow but can be very helpful.

[@yanadiRao-gf7nb]

Medicine name plese

[@LieliesPierre]

Why everyone have yo take the same meds when each of us has a different one.

[@Bumerism]

Please find a cure 🙏🏼🙏🏼🙏🏼😭😭😭