Case Study Uses Genetic Model to Find Treatment Options for Rare Epilepsies

At the 2016 American Epilepsy Society Annual Meeting, the genetic research company Pairnomix, LLC, reported on a case study that tested approved medications against a genetic model of a person with epilepsy caused by a mutation of the SCN8A gene.

What is SCN8A?

SCN8A is a gene encoding the alpha-8 subunit of the Nav1.6 sodium channel. Learn more at The Cute Syndrome Foundation and Wishes for Elliott Foundation, which both focus on SCN8A and are REN members.

About the Case Study

The person in the case study was diagnosed with early infantile epileptic encephalopathy (brain disorder) combined with global developmental delay. The individual’s seizures were not controlled even after being prescribed many common anti-epileptic drugs (AEDs). Genetic testing ordered by the person’s physician found a de novo mutation (meaning the mutation is not hereditary and is present for the first time in the family) in the SCN8A gene.

Researchers used high throughput screening with more than 1,300 approved drugs to find which ones might be an effective treatment. The screening identified 90 potential therapeutic options. The results were given to the person’s physician so together they can make better-informed healthcare decisions.

Pairnomix is working on additional cases, including for individuals living with KCNQ2 epileptic encephalopathy.

Outlook

For a third of the people living with epilepsy, no known treatment is currently available to control their seizures.

“For people with rare epilepsies, research to unlock answers is not moving fast enough because each population is so small,” said Brandy Fureman, Ph.D., vice president of research and new therapies at the Epilepsy Foundation. “This type of patient-centered, individualized approach is the kind of innovation that provides great promise and brings hope to people living with rare epilepsies.”