If you or your child has been diagnosed with a genetic condition that causes seizures or epilepsy, you may be wondering what the future holds. Epilepsy is a brain condition that causes repeated seizures due to unusual electrical activity in the brain. While many people with epilepsy can manage their symptoms with medications, about 30-40% continue to have uncontrolled seizures despite trying multiple treatments—a situation known as drug-resistant or hard-to-treat epilepsy.
For those with genetic conditions where seizures are a significant feature, this can be especially frustrating. Traditional epilepsy treatments focus on managing symptoms but don’t fix the underlying genetic problem. That’s why the development of targeted genetic therapies represents a potential game-changer, offering hope for more effective, lasting treatments that address epilepsy at its source.
Current Epilepsy Treatments
Today, epilepsy treatment typically includes a mix of approaches focused on reducing how often seizures happen and improving quality of life:
- Anti-seizure medicines: These drugs work to control seizures by reducing unusual electrical activity in the brain. Many different medications are available, and finding the right one often involves trial and error.
- Lifestyle changes: Avoiding known seizure triggers, getting enough sleep, managing stress, and keeping regular routines can help reduce how often epileptic seizures occur.
- Special diets: Certain diets like the ketogenic diet or modified Atkins diet may help some people have fewer seizures.
- Devices and procedures: Vagus nerve stimulators and responsive neurostimulation devices can help control seizures in some people. For focal epilepsy, surgery to remove the part of the brain causing seizures may be an option.
For genetic conditions where epilepsy is one of several features—such as Rett syndrome or tuberous sclerosis complex—treatment typically involves managing seizures alongside other symptoms like developmental delays, behavioral challenges, or other health issues.
While these treatments help many people live full lives, they don’t correct the underlying genetic problem in genetic epilepsies. That’s where new targeted therapies offer real promise.
The Promise of New Geneticically Targeted Epilepsy Therapies
Over the past few years, researchers have made remarkable progress in developing therapies that target the genetic causes of epilepsy. Unlike current treatments that only manage symptoms, these new approaches aim to:
- Address the root genetic cause of seizures, potentially stopping or reversing how the condition progresses.
- Reduce or stop seizures in people who haven’t responded to traditional medications.
- Improve thinking skills, behavior, and quality of life beyond just seizure control.
- Provide lasting benefit, potentially with a single treatment or fewer treatments over time.
This shift from symptom management to targeting the underlying cause could change outcomes for people with genetic conditions that cause epilepsy. Several of these therapies are now in clinical trials, bringing us closer to a future where these conditions might be treatable at their source.
Types of Genetically Targeted Therapies in Development
Researchers are exploring several new approaches to treat genetic epilepsies:
Antisense Oligonucleotides (ASOs): These are specially designed molecules that can reduce the amount of a specific protein being made in the brain. For epilepsies caused by too much activity of a certain gene (called gain-of-function mutations), ASOs can dial down that activity to restore balance. ASOs are usually given through spinal fluid and can reach the brain effectively. This approach is being tested for conditions like SCN2A, SCN8A, and KCNT1-related epilepsies. In recent groundbreaking developments, one infant with severe SCN2A epilepsy treated with an ASO called elsunersen showed a 60% reduction in how often seizures happened after treatment.
Gene Replacement Therapy: When epilepsy is caused by not having enough of a protein (called haploinsufficiency), gene therapy can deliver a working copy of the gene to brain cells. This is especially promising for conditions like STXBP1 encephalopathy, where researchers are developing therapies that could provide the missing protein. Gene replacement therapies for STXBP1 disorders are expected to begin clinical trials.
Gene Regulation Therapy: Instead of replacing a gene, these therapies deliver instructions to increase the activity of the existing gene.This approach is being used for Dravet syndrome, where the SCN1A gene doesn’t produce enough sodium channels. ETX101, a gene regulation therapy, delivers an engineered transcription factor that tells the brain to make more of the SCN1A protein from the existing gene.This therapy is currently being tested in infants and young children in clinical trials.
In addition to these genetically targeted therapies, small-molecule drugs that work more precisely than traditional anti-seizure medications are also being developed. These drugs target specific proteins affected by genetic changes, offering more tailored treatment options.
Genetic Testing is The First Step to Access Targeted Therapies
Because these therapies are designed for people with specific genetic changes, genetic testing is needed to find out whether you or your child might benefit from them. Testing can:
- Identify the exact gene responsible for seizures or epilepsy.
- Clarify whether you or your child might qualify for current clinical trials or future targeted treatments.
- Help predict how the condition might progress and whether other health issues might develop.
- Provide important information for family planning and testing of other family members.
At Genome Medical, our genetic counselors have deep expertise in neurological disorders. In a genetic counseling appointment, they review your medical and family history, help you determine if testing is right for you and guide you through the testing process. After genetic testing, a genetic counselor can explain what your results mean to help you and your provider make informed decisions about your care. If you haven’t yet had genetic testing or have questions about previous testing, you can schedule a phone appointment with us. We also offer genetic counseling and testing for family members who may be at risk.
Finding and Enrolling in Epilepsy Clinical Trials
Once you know your genetic results, you can search for trials that might be right for you using resources like ClinicalTrials.gov or through specialty epilepsy centers. You can search by condition name (for example, “Dravet syndrome” or “SCN2A epilepsy”) or by your specific gene. Each trial listing will explain who can join, study locations, and how to contact the research team.
Deciding whether to join a clinical trial is an important decision. Potential benefits include early access to promising new treatments, close medical monitoring, and contributing to research that could help others. Potential considerations include unknown side effects, the possibility that the treatment may not work as hoped, and the time needed for study participation.
At Genome Medical, we help connect patients with relevant clinical trials. Notifying our patients about potentially life-changing treatment opportunities is one of the most meaningful aspects of our work.
Looking Ahead
The future for people with genetic conditions that cause seizures is brighter than ever. Targeted genetic therapies represent a major shift from symptom management to treating the root cause, offering the possibility of better seizure control, improved development, and enhanced quality of life.
While these therapies are still being studied, the progress in recent years has been remarkable. Multiple clinical trials are underway, and we’re learning more every day about how to safely and effectively treat these conditions at their source.
Whether epilepsy is the primary feature of your or your child’s genetic condition, or one of several symptoms you’re managing, understanding the genetic cause is the critical first step toward accessing these emerging targeted therapies.
At Genome Medical, we’ll continue to keep you updated on new developments and help you and your family access the best possible care—today and in the years to come.
