In the news: The role of genetic testing in pediatric epilepsy diagnosis and treatment

Pediatric epilepsy affects approximately 0.5-1% of children, with an increased prevalence in those with developmental disabilities. Epilepsy’s pathophysiology involves a range of factors including genetic mutations, structural brain abnormalities and metabolic disorders. Given the wide variety of potential causes and seizure types, diagnosing pediatric epilepsy can be complex.

Previously, finding the cause of pediatric epilepsy often involved laborious, piecemeal metabolic and chemical tests, making the process complicated for both patients and families. Technological advancements over the past decade, such as next-generation sequencing, have made genetic testing a vital tool in diagnosing and managing the disease through personalized treatment, leading to better outcomes.

In recent discussions, John Schreiber, M.D., explores the impact of genetic testing on pediatric epilepsy, highlighting its benefits, challenges and evolving role in treatment. Dr. Schreiber serves as Associate Chief of Epilepsy and Electroencephalography Operations, Medical Director of Electroencephalography and Medical Director of the Epilepsy Genetics Program at Children’s National Hospital,

“Genetic testing is becoming easier and less expensive to perform in patients with unexplained epilepsies, and thankfully now is being used much earlier in a patient’s epilepsy course,” Dr. Schreiber says. “It’s important to try to make that diagnosis early so we can ensure patients have the appropriate interventions early and avoid unnecessary tests and things that they don’t need.”

You can watch the full dialogue, “The Role of Genetic Testing on the Management Pediatric Epilepsy” on NeurologyLive.