Evidence of Utility of Gene Testing for Children with Unexplained Epilepsy Continues to Grow

Analysis of 152 children with unexplained epilepsy treated at a single institution had care that was substantially affected by genetic evaluation, suggesting any child with unexplained epilepsy should have such an evaluation. 

Of those tested, 72% had changes in medical care in at least 1 of 4 categories, including treatment (45%), prognosis (28%), care coordination (48%), and diagnosis (1%). Among those who had changes to treatment based on findings of genetic evaluation, the changes included antiseizure medications (ASMs; 36%), eligibility for clinical trials or investigational treatments (10%), switching to gene-specific treatments (7%), or use of an off-label treatment (3%). 

“A genetic diagnosis impacted medical management for nearly three out of four children in our study,” said Isabel Haviland, MD, lead author of the study and postdoctoral research fellow in neurology/neurobiology at Boston Children’s Hospital and Harvard Medical School. “About two-thirds of pediatric epilepsy is unexplained, and genetic testing should be offered in these cases because of the significant potential impact on management, including on clinical treatment and eligibility for clinical studies.”

Seizure freedom was achieved by 1 child after having been switched to a gene-specific medication. Another was found to have a polymorphism in the GRIN2A glutamate channel and is now receiving memantine, which would not have been considered without finding this variant.

“We found the impact of a genetic diagnosis was even higher in children whose epilepsy began before they turned 2 years old,” Dr. Haviland said. “Genetic testing should be part of the standard evaluation of children with unexplained epilepsy.”

These data were presented at the American Epilepsy Society (AES) Annual Meeting, held December 3-7, 2021, in Chicago, Illinois and virtually through AES 2021 Digital Select.