Genetic Testing & Epilepsy

Living with epilepsy can raise a lot of questions – especially why it’s happening. One tool that’s helping provide answers is genetic testing. In this post, we’ll break down what genetic testing is, how it relates to epilepsy, and what you should know about getting tested.

Understanding Genetic Testing

Genetic testing is a medical test that examines your DNA (your genetic code) for changes or mutations. In simple terms, it’s like a spell-check for your genes. It looks for any “typos” in your DNA that might explain health conditions. To perform this test, doctors usually need a small sample of your blood or saliva. The lab then analyzes your genes for any unusual changes that are known to cause problems.

Sample Collection

Most often, you’ll provide a blood sample. Sometimes, saliva or a cheek swab is used – basically, whatever gets some of your DNA.

Lab Analysis

Specialists in a lab will read through your genetic code. They might focus on one specific gene, a group of genes, or even your entire DNA (your genome) to spot any differences that could be linked to epilepsy. Don’t worry; you don’t have to understand the tech – your medical team will interpret the results for you.

Results

It usually takes a few weeks (or sometimes a couple of months) to get results back. When they’re ready, you’ll meet with your doctor (and often a genetic counselor) to go over what they found. The idea of someone examining your genes can sound a bit sci-fi, but the process is straightforward for you as the patient. Other than a quick needle poke or spit-in-a-tube, there’s not much for you to do but wait for answers.

The Role of Genetics in Epilepsy

You might be wondering, “Why look at my genes? I thought epilepsy was about the brain, not DNA!” It’s true that seizures start in the brain, but genes (which you inherit from your parents) can play a significant role in how the brain works. Researchers estimate that about 30–40% of epilepsy cases involve a genetic predisposition. This means a change in someone’s genes makes them more likely to have seizures. However, genetics in epilepsy isn’t always simple. Here are a few key points:

Genetic Doesn’t Always Mean Inherited

Some types of epilepsy do run in families (inherited from mom or dad). But sometimes, a gene change can happen for the first time in you – a brand new mutation not present in your parents. So if no one in your family has seizures, it doesn’t rule out a genetic cause for your epilepsy.

Hundreds of Genes Linked to Epilepsy

Scientists have discovered many different genes that can cause or contribute to seizures. Some genes affect how brain cells communicate, while others affect brain development. This is why one person’s epilepsy can be very different from another’s – the genetic puzzle pieces aren’t the same.

One Factor Among Many

Having a genetic variant (mutation) might be part of the reason someone has epilepsy, but environmental factors or other health issues can still matter. For example, a person might have a genetic tendency for seizures but never actually have one until they encounter another trigger. So genetics is one piece of the puzzle, not the whole picture.

Knowing if your epilepsy has a genetic basis can be empowering. It can help answer the “why me?” question that many young adults have. If a specific gene is identified, it gives your epilepsy a name. Sometimes, people find it comforting to learn that their condition is actually a known syndrome (for example, finding out “oh, I have Dravet syndrome, which is caused by a change in the SCN1A gene”). It can make you feel less alone because you can connect with others who have the same condition.

Why Consider Getting Genetic Testing?

Not everyone with epilepsy will need genetic testing. But there are several reasons why you (and your doctor) might consider it:

Unexplained Epilepsy

If you’ve had all the regular tests – EEGs, MRIs, etc. – and there’s still no clear cause for your seizures, genetics might hold the answer. In fact, the National Society of Genetic Counselors and the American Epilepsy Society recommend genetic testing for anyone with unexplained epilepsy. It’s becoming standard practice to check the DNA when no other cause is found.

Planning for the Future

For young adults, you might be thinking about college, careers, relationships, and eventually having a family. Genetic testing can provide information about how (or if) your epilepsy could be passed on to your children. The good news is that for most people with epilepsy, the risk of passing it to kids is very low. If your test finds a specific hereditary form of epilepsy, you can use that knowledge for family planning decisions. (It’s totally up to you – some people want to know this, others aren’t ready, and that’s okay!)

Personal Peace of Mind

Simply knowing why you have epilepsy can be a huge relief. Epilepsy can sometimes feel random or even like it’s your “fault.” Finding out there’s a concrete genetic reason can lift that emotional weight. For some, it provides closure or validation – like, “Hey, this is a real medical condition with a name, and I’m not alone in this.”

Better Treatment Options

Identifying a genetic cause can help doctors choose a more effective treatment or avoid treatments that won’t work. For example, some rare genetic epilepsies respond well to specific medications or diets. If testing reveals you have that type, your doctor can tailor your care accordingly.

Connecting with Community and Resources

Many genetic forms of epilepsy (especially rare ones) have support networks, nonprofit groups, or research studies focused on them. Knowing your specific genetic diagnosis might plug you into a whole new community. It can feel good to talk to others with the same condition or to contribute to research that could lead to better treatments.

Example Scenario: Meet Alex, a twenty-year-old college student who started having seizures at 16. Despite tests, doctors never found a cause – MRI was clear, no head injuries, no infections. Alex decides to pursue genetic testing after talking with his neurologist. He provides a saliva sample and waits about a month for results. The test comes back showing a change in a gene known to be associated with epilepsy. Finally, Alex has a name for his condition (which he learns is a rare genetic epilepsy syndrome). This knowledge doesn’t change who Alex is, but it does bring some relief. He discovers that others with this syndrome often have seizures triggered by lack of sleep, so he prioritizes good sleep hygiene. Even better, his doctor switches him to a medication that studies have shown works best for this syndrome. Alex also feels less worried about someday having kids, after learning that his specific genetic change isn’t usually passed down directly to children.

Every person’s situation is unique, but stories like Alex’s show how genetic answers can sometimes shine a light at the end of a long diagnostic tunnel.

The Testing Process: What to Expect

If you decide to go ahead with genetic testing, what actually happens? Here’s a step-by-step look at a typical genetic testing process for epilepsy:

Pre-Test Counseling

Many clinics will have you talk to a genetic counselor or a doctor before testing. This is just a conversation about what the test can or can’t tell you, the possible outcomes, and how you might feel about them. (Some insurance companies even require genetic counseling before they cover the test!) This step is all about informed consent – making sure you are comfortable and all your questions are answered. Don’t be afraid to ask anything that’s on your mind.

Giving a Sample

The easy part! A nurse will draw a small tube of blood, or you might be given a saliva kit to spit in. It’s quick and not much different from other blood tests, except this one is looking at DNA. There’s usually no need to fast or do any special prep. Just show up and say “ahh” (for saliva) or roll up your sleeve (for blood).

Waiting Period

Now comes the part that requires a bit of patience. Depending on how extensive the test is, it might take a few weeks to a couple of months to get results. The lab is busy extracting your DNA and running complex analysis on huge machines (imagine high-tech sequencers that read every letter of your genetic code). While you wait, it might help to remind yourself that not knowing right away is normal – it doesn’t mean anything is wrong; it’s just science taking its time.

Results and Follow-Up

When the results are ready, you’ll typically meet again with the genetic counselor and your neurologist. They will explain what (if anything) the test found. Genetic test results aren’t just “positive” or “negative” like a yes/no – they can be a bit nuanced:

• Positive (found a mutation): This means they found a genetic change that is likely the cause of your epilepsy. You’ll discuss what that means for your treatment and possibly your family.

• Negative (no mutation found): This means they didn’t find an obvious genetic cause. But it doesn’t always mean your epilepsy has no genetic component – it might just be that current science can’t detect it yet. Your doctor might talk about other next steps or simply recommend re-testing in a few years as new genes are discovered.

• Variant of Uncertain Significance (VUS): Sometimes the test finds a change in a gene, but it’s not clear if that change causes epilepsy or not. Think of this as a “maybe.” These results can be frustrating (“So...I have a maybe mutation?”), but with time and research, many VUS get reclassified to positive or benign. Your doctor might not act on a VUS except to keep an eye on new research.

  
  

Regardless of the outcome, getting genetic results can stir up feelings. It’s normal to feel anxious, hopeful, or even confused. This is why that genetic counselor is so valuable – they can help you process the information. They can also talk about who in your family might need to know the results and how to share that information if you choose to. Remember, it’s your information – you control who gets to know and when.

Conclusion

Understanding genetic testing and its role in epilepsy can be a game-changer. It provides insights that can help you navigate your condition better. Whether you’re seeking answers, planning for the future, or looking for community support, genetic testing may offer the clarity you need. If you’re considering this path, consult with your healthcare provider to discuss the best options for you.

References

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3. SCN1A-Related Epilepsies. Epilepsy Foundation. Retrieved from https://www.epilepsy.com/causes/genetic/scn1a-related-epilepsies

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9. Dietary Therapies for Seizures. Epilepsy.com. Retrieved from https://www.epilepsy.com/treatment/dietary-therapies

10. Genetics of Dravet Syndrome. Dravet Foundation. Retrieved from https://dravetfoundation.org/what-is-dravet-syndrome/genetics-of-dravet-syndrome

11. Genetic Testing and Counseling for the Unexplained Epilepsies: NSGC Guidelines. National Society of Genetic Counselors. Retrieved from https://www.nsgc.org/Research-and-Publications/Journal-of-Genetic-Counseling/Post/genetic-testing-and-counseling-for-the-unexplained-epilepsies-an-evidence-based-practice-guideline-of-the-national-society-of-genetic-counselors-1

12. Exome-Based Testing for Patients with Seizures: Advantages Over Panel-Based Testing. AESNet/GeneDx. Retrieved from https://aesnet.org/abstractslisting/exome-based-testing-for-patients-with-seizures-advantages-over-panel-based-testing

13. Dravet Syndrome: What It Is, Symptoms, Treatment & Prognosis. Cleveland Clinic. Retrieved from https://my.clevelandclinic.org/health/diseases/22517-dravet-syndrome