Genetic testing is transforming the way we understand and treat epilepsy, especially for people with early-onset, drug-resistant, or unexplained seizures. Research shows that up to 40% of epilepsy cases may have a genetic cause—insight that can lead to more accurate diagnoses, personalized treatment options, and connections to emerging therapies12.

Modern genetic testing methods—such as epilepsy gene panels, whole-exome sequencing (WES), and whole-genome sequencing (WGS)—can detect mutations linked to specific epilepsy syndromes like Dravet syndrome, Lennox-Gastaut syndrome, or GEFS+ (generalized epilepsy with febrile seizures plus). Identifying these mutations can help doctors avoid medications that may worsen seizures and consider alternative treatments or clinical trials2.

The American College of Medical Genetics and Genomics (ACMG) recommends considering genetic testing if:

• Seizures began in infancy or early childhood

• The epilepsy is drug-resistant

• There are additional developmental or neurological challenges

• There’s a known or suspected family history of seizures or epilepsy3

How Do You Get Genetic Testing?

Genetic testing typically starts with a referral from your neurologist, epileptologist, or genetic counselor. They can help determine whether testing is appropriate and which type is best. Testing is often done using a simple blood sample or cheek swab, which is then analyzed by a certified genetics lab.

Some insurance plans cover genetic testing when it’s considered medically necessary—especially for drug-resistant or childhood-onset epilepsy. If insurance doesn’t cover it, some labs offer financial assistance or reduced-cost programs. You can also ask your care team about participating in research studies that include no-cost genetic testing.

If you or your loved one has epilepsy and you're curious about genetic testing, talk to your healthcare provider. A diagnosis can open doors to treatment options, peace of mind, and a stronger support network.

​

Footnotes

1. Poduri, A., & Lowenstein, D. H. (2011). Epilepsy genetics—past, present, and future. Current Opinion in Genetics & Development, 21(3), 325–332. 

2. Perucca, P., Bahlo, M., & Berkovic, S. F. (2020). The genetics of epilepsy. Annual Review of Genomics and Human Genetics, 21, 205–230. 

3. ACMG Board of Directors. (2021). Clinical practice resources for the genetic evaluation of epilepsy. American College of Medical Genetics and Genomics. 

​

​