Dec 3, 2021

Genetic Diagnosis in Pediatric Epilepsy Impacts Medical Management

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Press Release

EMBARGOED FOR RELEASE: Friday, Dec. 3, 2021, 9:00 AM CST

Abstract 1826579


CHICAGO – Children with unexplained epilepsy should undergo genetic testing because the results may impact their medical management, including treatment, suggests a study being presented at the American Epilepsy Society Annual Meeting. The study is the first to report on the impact of a genetic diagnosis on the medical management of pediatric epilepsy in a clinical setting.

“A genetic diagnosis impacted medical management for nearly three out of four children in our study,” said Isabel Haviland, M.D., 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.”

In the study, the researchers looked at the medical records of 152 children with epilepsy who were tested between 2012 and 2019 at one institution and received a genetic diagnosis. They determined 72% had a subsequent impact in at least one of four categories of medical management: care coordination, meaning they were referred to specialists and/or for diagnostic testing because of health issues related to the finding (48%), treatment (45%), prognosis, or outlook for the course of the condition (28%) and diagnosis (1%). Of those whose treatment was impacted:

  • 36% had an impact on anti-seizure medication choice.
  • 10% were eligible for gene-specific clinical trials or investigational new drug use.
  • 7% were started on gene-specific vitamin or metabolic treatments, such as the ketogenic diet.
  • 3% were treated with a medication off-label, meaning a drug that had not yet received FDA approval for their type of epilepsy.


The change in treatment course can make a significant difference in the child’s life, Dr. Haviland noted. For example, vitamin B6 is important for brain development but some genetic disorders affect its pathway in the brain. Supplements or related vitamins may partially correct the problem and treat the epilepsy. One child in the study was found to have a variant in a gene (PRRT2) that encodes a protein involved in the release of neurotransmitters in the brain and was switched to a different anti-seizure medication that is effective for epilepsy associated with this disorder and eventually became seizure-free. Another child was found to have a variant in a gene involved in brain cell communication (GRIN2A) and was treated with memantine, which is only approved for Alzheimer’s disease and would not have been considered without a genetic diagnosis.1

“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.”



Davis Renzelmann
Public Communications Inc.

About the American Epilepsy Society

Founded in 1936, the American Epilepsy Society (AES) is a medical and scientific society whose members are dedicated to advancing research and education for preventing, treating and curing epilepsy. AES is an inclusive global forum where professionals from academia, private practice, not-for-profit, government and industry can learn, share and grow to eradicate epilepsy and its consequences.