When most people think about epilepsy, they picture seizures without necessarily considering why they happen. But for a significant number of adults, the answer may lie in their genes. In fact, research shows that roughly 40% of adult epilepsy cases have a genetic component. That percentage is even higher in people whose seizures began in childhood or have been difficult to control with standard medications and treatments.
Understanding whether epilepsy has a genetic cause isn’t just about putting a label on a condition. It can shape treatment decisions, helping doctors choose medications that are more likely to work, avoid ones that could make things worse, and better predict what to expect over time.
Assessing Patients with Suspected Adult Genetic Epilepsy
If doctors think your epilepsy could be genetic, the evaluation should go beyond a routine check-up. At SequenceMD, we work with your care team to build a complete picture of your health, your seizures, and your family history. Here’s what that process can look like.
A Detailed Seizure History: We will want to learn about your seizures in as much detail as possible from you and/or family or care team, including what happens before, during, and after. If available, video EEG (electroencephalogram) recordings can be especially helpful, as they capture brain activity during a seizure.
Family History: We’ll want to know about your relatives’ health going back three generations, if possible. We’re looking for patterns of epilepsy, fever-related seizures, and unexplained or sudden deaths. (It is worth noting that not all genetic epilepsy in adults is inherited. A spontaneous genetic mutation can also lead to genetic epilepsy syndromes.)
Brain Imaging and Testing: We may request new tests or review past EEG imaging (which measures electrical activity in the brain) and MRI scans using specialized epilepsy protocols to look for structural differences.
Metabolic Testing (in Select Cases): If certain rare genetic conditions are suspected, blood and urine tests may check how your body processes energy. These can include measurements of substances like lactate or organic acids.
Genetic Testing: This is a key step for adults who may have genetic epilepsy. Testing might involve a targeted epilepsy gene panel or whole genome sequencing (which gives us a broader look at your DNA). Sometimes, testing parents alongside the patient (called “trio testing”) improves the chances of finding an answer.
Additional Specialized Testing: In certain cases, doctors may recommend a lumbar puncture (spinal tap) to evaluate how the brain uses glucose (sugar), particularly if a condition called GLUT1 deficiency is suspected.
How a Genetic Diagnosis Can Shape Treatment
One of the biggest benefits of identifying a genetic cause for epilepsy is that it can directly influence care.
More Personalized Treatment: Knowing the precise genetic cause of epilepsy in adults helps guide treatment decisions. Some genetic epilepsies respond best to specific medications and treatment, while others require avoiding certain drugs altogether. This can vary not only depending on the genetic epilepsy syndrome, but also the specific gene causing the condition. Once we have a diagnosis, our genetics clinic may also be able to refer you to a comprehensive epilepsy center for advanced therapies and expert care.
Dietary Therapy: For some conditions like GLUT1 deficiency, a ketogenic diet (high fat, low carbohydrate) can significantly reduce seizures and even change the course of the disease.
Genetic Counseling: Understanding how a condition is inherited can help individuals and families make informed decisions about the future, including family planning. We can also counsel you on managing the risks associated with epilepsy, including driving safety and other important precautions.
Access to Emerging Treatments: There is growing momentum in research, including clinical trials focused on gene-targeted therapies. Having a genetic diagnosis may allow you to enroll in a relevant trial.
Getting a Genetic Evaluation for You or a Loved One
If you or a loved one is living with epilepsy, especially if seizures started early in life, run in the family, or have been difficult to control, it may be worth asking whether a genetic evaluation could help. A clearer diagnosis can:
- Open the door to more targeted treatments
- Help avoid ineffective or harmful therapies
- Provide insight into what to expect in the future
- Support better-informed decisions for you and your family
Epilepsy care is increasingly moving toward a more personalized approach. For many adults, understanding the genetic piece of the puzzle can be a powerful step forward. The SequenceMD team can help. Explore our site to learn more, or ask your doctor for a referral.
