Greater Insights into Seizure Causes With Epilepsy Genetic Testing in Adults: Yi Li, MD, PhD


The clinical assistant professor of neurology at Stanford University talked about findings from a study on genetic testing in adults with epilepsy and the importance of access to genetic testing for this patient population. [WATCH TIME: 7 minutes]

WATCH TIME: 7 minutes

"I believe a step forward would involve making testing and diagnosis more accessible for adult populations. By doing so, we can gain a better understanding of who is at a higher risk for pathogenic findings, identify those at lower risk, and potentially refine the diagnostic algorithm for more effective triaging."

A majority of unexplained epilepsy, defined by having 2 or more unprovoked seizures or 1 unprovoked seizure with a propensity for others, is estimated to have an underlying genetic etiology.1 To address this, researchers generated 2 clinical recommendations which include a strong suggestion that all individuals with this type of epilepsy be genetically tested, regardless of age. Additionally, it was strongly recommended by researchers that genetic tests be selected, ordered, and assessed by a qualified provider in the setting of appropriate pre-test and post-test genetic counseling.

According to a new study, findings showed that more than 40% of adult patients with epilepsy have a genetic link to their condition.2 Although studies show that genetic testing is common in pediatric patients with epilepsy, the new data suggest that testing should also be offered to adults with epilepsy who have not received it, especially if they had their first seizure before becoming an adult. These findings were presented at the 2023 American Epilepsy Society Annual Meeting, held December 1-5, in Orlando, Florida, by lead author Yi Li, MD, PhD, clinical assistant professor of neurology at Stanford University, and colleagues.

In the new study, investigators identified 286 patients with epilepsy (ages 16 and older) from the Stanford Research Repository database between January 1, 2018, and June 1, 2023, who received genetic testing. Among these patients, 41% had at least one genetic variant related to epilepsy (n = 117), 2% had genetic variants unrelated to epilepsy (n = 5) and 53% had variants of uncertain significance (n = 152). Li and colleagues observed that patients who had a history of developmental delay and seizures at a younger age were more likely to test positive in the genetic test.

Recently, Li sat down with NeurologyLive® during the meeting to discuss the findings from her presented research on genetic testing among patients with epilepsy. She talked about how the medical community can address the challenges in ensuring widespread accessibility to genetic testing for patients with epilepsy, particularly adults with the condition. Li also spoke about the key factors that contribute to the substantial delay, averaging between 13 and 14 years, between the onset of seizures and the completion of genetic workups. In addition, she explained how advancements in genetic testing for adults with epilepsy help to give a more tailored approach in future diagnostic algorithms and potential therapeutic interventions.

Click here for more coverage of AES 2023.

1. Smith L, Malinowski J, Ceulemans S, et al. Genetic testing and counseling for the unexplained epilepsies: An evidence-based practice guideline of the National Society of Genetic Counselors. J Genet Couns. 2023;32(2):266-280. doi:10.1002/jgc4.1646
2. More than Four in 10 Adults with Epilepsy Have a Genetic Link, Adults with Unknown Cause of Condition Should Get Tested, Study Suggests. News Release. Published December 1, 2023. Accessed December 5, 2023.
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