Photo Credit: Md Babul Hosen
New research was presented at AES 2023, the annual meeting of the American Epilepsy Society, held December 1-5. This is the second of 5 studies presented during the conference that PW has selected to highlight.
Genetic testing in children with early-onset epilepsies has become the standard of care. A study by Yi Li, MD, PhD, and colleagues aimed to determine whether physicians should offer such testing to adults with epilepsy who never received it. The researchers identified 286 patients aged 16 and older who underwent genetic testing, including whole exome sequencing (WES), panel testing, and microarray testing. The average age of seizure onset was 12, although 21.4% of patients had their first seizure as infants. In total, 41% had at least one genetic variant related to epilepsy, and 2% had unrelated variants. WES resulted in the greatest percentage of positive results (48% vs 34% for panel testing and 21% for microarray testing). Among 22 patients who had panel testing with either a variant of unknown significance or negative result who then had WES, nine (41%) were found to have pathogenic variants for epilepsy. Patients with a history of developmental delay and seizures at a younger age were most likely to have a positive result. “Interestingly, those with a family history of epilepsy were not more likely to test positive for a genetic link, meaning doctors should not rule out testing in children or adults if there is no family history,” Dr. Li said in a press release.
