Genetic testing benefits children with unexplained epilepsy


Genetic testing affected the medical care of nearly three of four children with unexplained epilepsy, a study of patients with infantile or infantile seizures showed.

A genetic diagnosis had a direct impact on medical management in at least one category for 72% of patients and in more than one category for 34%, said Isabel Haviland, MD, of Boston Children’s Hospital, during the presentation. American Epilepsy Society annual meeting, held in Chicago and online.

“The impact of genetic diagnosis on medical management has been substantial in our cohort of 152 people with pediatric epilepsy,” said Haviland MedPage today.

“The coordination of care and treatment were affected in almost half of the participants, and the prognosis changed in almost a third of the individuals,” she said. “The impact was greatest in those whose age of onset of epilepsy was earlier – the age of 2 years or less – but was also significant in those whose age of onset was later . “

“An impact has been observed both in people with developmental disabilities and in those with normal development,” added Haviland. “Genetic testing should be included as part of the standard assessment of people with unexplained pediatric epilepsy, as a means of achieving diagnostic accuracy and to inform clinical management.”

The study is the first to report the effect of a genetic diagnosis on the medical management of pediatric epilepsy in clinical settings. It examined 152 pediatric patients at Boston Children’s Hospital with a clinical diagnosis of genetic epilepsy, out of 602 patients with infantile or childhood epilepsy who underwent next-generation sequencing between 2012 and 2019. Of the 152 children included in the analysis, 46% were girls and the median age of onset was 6 months.

A genetic diagnosis affected at least one of four categories of medical management, including coordination of care (48%), treatment (45%), advice on a change in prognosis (28%), and change. diagnostic (1%).

Care coordination changes included monitoring for features associated with the disease, such as late-onset symptoms, disease-specific testing to assess systemic disease involvement, and referral to specialists or clinics. multidisciplinary disease specific.

Treatment changes included:

  • Choice of antiepileptic drugs for 36% of patients
  • Vitamin or metabolic treatments specific to a gene for 7%
  • Non-MA drugs focused on pathways for 3%
  • Discussion of gene-specific clinical trials for 10%

A change in treatment can make a significant difference in a child’s life, noted Haviland. Vitamin B6 is important for brain development, for example, but certain genetic disorders affect its pathway. Supplements or related vitamins can partially correct the problem and treat epilepsy.

In the study, one child was found to have a PRRT2 variant with mild familial infantile seizures and was treated with oxcarbazepine (Trileptal) with excellent response. Another patient had a variant of GRIN2A gene and was treated with memantine (Namenda) – which is FDA approved for Alzheimer’s disease – a change that would not have been considered without a genetic diagnosis.

“Of the 25% of our cohort of individuals with unexplained infantile or infantile epilepsy who were diagnosed genetically, we demonstrated a significant impact on medical care and prognosis beyond counseling on the risk of recurrence in over 70% of cases, “noted Haviland and colleagues in their presentation.” These results support the routine use of genetic testing as part of the standard assessment of patients with unexplained epilepsy in order to optimize and to individualize treatment, prognosis and coordination of clinical care. “

  • Judy George covers neurology and neuroscience news for MedPage Today, writing about brain aging, Alzheimer’s disease, dementia, MS, rare diseases, epilepsy, autism, headaches , stroke, Parkinson’s disease, ALS, concussions, CTE, sleep, pain and more. To follow


The study was funded by the National Institute of Neurologic Disorders and Stroke and the Children’s Rare Disease Cohort Initiative at Boston Children’s Hospital.


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