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What’s New in Epilepsy Research? 5 Recent Studies

Written by Kelly Crumrin
Posted on August 6, 2024
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About one-third of people with epilepsy continue to have seizures (known as breakthrough seizures) despite using one or more anti-seizure medications (ASMs).1 Epilepsy studies often focus on finding effective new strategies to help those with drug-resistant epilepsy better manage their condition. Other trials look at ways to get an earlier diagnosis and better predict and manage the course of epilepsy.

Here are five recent studies that have provided insights into epilepsy and advances in its treatment.

See if You May Be Eligible for a Clinical Trial

1. Controlling Breakthrough Seizures

Medications known as benzodiazepines are the main rescue treatment for frequent or repetitive breakthrough seizures. Until recently, the only way to administer these rescue medications was rectally, which poses several challenges. Based on the results of multiple studies, the U.S. Food and Drug Administration (FDA) recently approved two nasal spray formulations of benzodiazepines as rescue medication, providing an easier way to control breakthrough seizures.2

2. Recommending a Diet for Drug-Resistant Epilepsy in Adults

The ketogenic diet has been used to treat epilepsy since the 1920s, mostly in children. A century later, in 2020, the first guidelines recommending this dietary approach for drug-resistant epilepsy in adults were published. The neurologists who published the recommendation noted that this high-fat, low-carbohydrate diet may reduce seizures in as many as 60 percent of adults with drug-resistant epilepsy and also improve quality of life.3

3. Using Genes To Target Treatments

Certain inherited genes can raise the risk of developing epilepsy. To learn more about which genes influence which types of epilepsy, researchers examined the genes of almost 30,000 people diagnosed with epilepsy. The study also looked at whether certain ASMs might be more likely to work well for people with certain genes. Results showed that generalized epilepsies have a stronger association with inherited genetic variants than focal epilepsies. Researchers also stated that their findings could help speed the development of new ASMs by targeting those that are most likely to be effective.4

4. Testing Genes To Plan Epilepsy Treatment in Infants

When infants have epilepsy, getting an accurate and detailed diagnosis as soon as possible can help ensure better seizure control and better outcomes. Some researchers focus on ways to diagnose and treat epilepsy sooner and more accurately.5

Researchers enrolled 100 infants with seizures into a study to find out whether rapid genome sequencing — comprehensive genetic testing — could make a difference in treatment strategies or prognosis (outlook). According to their results, rapid genome sequencing guided the treatment approach for 56 percent of the infants and helped doctors counsel parents about prognosis in 86 percent of cases. For parents of children who have genetic epilepsies with a poor prognosis, testing could also help them understand the potential risk for any future children.5

5. Targeting Seizure-Prone Cells To Prevent Further Damage

Another study examined the brain cells of mice that experienced seizures early in life. Researchers found that the early-life seizures affected only a few brain cells, but changes in these cells made the mice more prone to seizures and cognitive changes later in life. This research could help scientists find ways to intervene sooner after a first seizure and prevent further damage.6

Finding New Ways To Target Epilepsy

Many ongoing studies are also looking at new ASMs that work in different ways to treat epilepsy. Investigations testing potential approaches for safety and effectiveness include7:

  • Studies on glutamate receptors, which are involved in damage to brain cells
  • Clinical trials for drugs that control potassium channels in brain cells
  • Research into tropomyosin receptor kinase B (TrkB) signaling, believed to be involved in the growth of new brain cells
  • Trials looking into the mammalian target of rapamycin (mTOR) signaling pathway, which plays a role in connections between brain cells

Without volunteers participating in clinical trials, it wouldn’t be possible to find safe and effective new ASMs. In fact, new epilepsy drugs can’t become available without going through clinical trials.8

Learn more about what’s involved in clinical trials — and how your rights are protected — by reading 6 Facts To Know About Epilepsy Clinical Trials.

See If You May Be Eligible For A Clinical Trial

Talk With Others Who Understand

MyEpilepsyTeam is the social network for people with epilepsy and their loved ones. On MyEpilepsyTeam, thousands of members come together to ask questions, give advice, and share their stories with others who understand life with epilepsy.

Do you or a loved one have epilepsy and interest in joining a clinical trial? Have you participated in a clinical trial before? Share your experience in the comments below, or start a conversation by posting on your Activities page.

References
  1. Guery D, Rheims S. Clinical management of drug resistant epilepsy: a review on current strategies. Neuropsychiatr Dis Treat. 2021;17:2229-2242. doi:10.2147/NDT.S256699
  2. Santilli N, Dewar S, Guerra C, Misra SN, Rabinowicz AL, Carrazana E. Use of intranasal rescue therapy for seizure clusters in students with epilepsy: nurses’ knowledge, perceptions, and practice. Epilepsy Behav Rep. 2023;22:100604. doi:10.1016/j.ebr.2023.100604
  3. Cervenka MC, Wood S, Bagary M, et al. International recommendations for the management of adults treated with ketogenic diet therapies. Neurol Clin Pract. 2021;11(5):385-397. doi:10.1212/CPJ.0000000000001007
  4. International League Against Epilepsy Consortium on Complex Epilepsies. GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture. Nat Genet. 2023;55(9):1471-1482. doi:10.1038/s41588-023-01485-w
  5. D’Gama AM, Mulhern S, Sheidley BR, et al. Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study. Lancet Neurol. 2023;22(9):812-825. doi:10.1016/S1474-4422(23)00246-6
  6. Xing B, Barbour AJ, Vithayathil J, et al. Reversible synaptic adaptations in a subpopulation of murine hippocampal neurons following early-life seizures. J Clin Invest. 2024;134(5):e175167. doi:10.1172/JCI175167
  7. Łukasiuk K, Lasoń W. Emerging molecular targets for anti-epileptogenic and epilepsy modifying drugs. Int J Mol Sci. 2023;24(3):2928. doi:10.3390/ijms24032928
  8. French J, Sirven JI. Clinical trials. Epilepsy Foundation. Accessed April 11, 2024. https://www.epilepsy.com/treatment/clinical-trials

Posted on August 6, 2024
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Kelly Crumrin is a senior editor at MyHealthTeam and leads the creation of content that educates and empowers people with chronic illnesses. Learn more about her here.

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