Understanding genetic changes in difficult-to-treat focal epilepsy
Official title: Discovery and functional characterization of somatic variation in intractable focal epilepsy
Funded at Univ of North Carolina Chapel Hill · NIH-11001691 · Data updated 2026-11-12
This study is looking at the genetic differences in the brains of people with focal epilepsy who haven't found relief from regular treatments, hoping to uncover new ways to help them feel better.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Univ of North Carolina Chapel Hill NIH-funded |
| Lab location | 1 site (Chapel Hill, United States) |
| Project start | July 1, 2024 |
| Project end | June 30, 2026 |
| Funding year | 2024 |
| Award (this year) | $41,494 |
| NIH project number | 1F99NS139548-01 |
| Project ID | NIH-11001691 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals with focal epilepsy, especially those who have not responded to anti-epileptic medications and may require surgical intervention.
✕Less likely to help
Patients with focal epilepsy that is well-controlled with medication or those without a need for surgical evaluation may not benefit from this research.
What this research studies
This research investigates the genetic variations that occur in the brains of patients with focal epilepsy, particularly those who do not respond to standard treatments. By examining tissue samples from patients who have undergone surgery for epilepsy, the study aims to identify specific genetic changes that contribute to the condition. The researchers will focus on understanding how these variations develop during brain formation and their role in causing seizures. This work is crucial for discovering new therapeutic options for patients suffering from this challenging form of epilepsy.
Why it matters
Potential benefit: If successful, this research could lead to new treatments for patients with refractory focal epilepsy, improving their quality of life.
How similar studies have gone: Previous research has shown promise in identifying genetic factors in epilepsy, suggesting that this approach could yield valuable insights and advancements.
Where this research is happening
-
Univ of North Carolina Chapel Hill
Chapel Hill, United States Active
Researchers
- Principal investigator: Berglind, Ana Ericka — Univ of North Carolina Chapel Hill
- Study coordinator: Berglind, Ana Ericka
Related research
Other NIH-funded projects on the same topics.
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Predicting seizure patterns in focal epilepsy patients
Aims to create personalized models to forecast how often seizures will happen over time in people with focal epilepsy.
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Patchy (mosaic) genetic changes in focal epilepsy
This project looks for mosaic (patchy) genetic mutations in brain tissue from people with mesial temporal lobe epilepsy to better understand causes and help guide future treatment choices.
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Predicting seizure patterns for people with focal epilepsy
This project builds tools to forecast how often seizures may happen over time for people with focal epilepsy using long-term seizure records.
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Improving electrode placement for epilepsy treatment using brain imaging techniques
This study is looking for ways to improve epilepsy treatment by using advanced imaging techniques to help doctors place electrodes more accurately in the brain, so they can better predict and manage seizures for patients who are having trouble with their epilepsy.
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Understanding and predicting seizures in patients with focal epilepsy
This study is working on new ways to predict how often people with focal epilepsy might have seizures, using information from 450 patients to better understand their unique seizure patterns over time.
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Understanding genetic mutations in difficult-to-treat focal epilepsy
This study is looking at the genetic causes of hard-to-treat epilepsy in people whose brain scans look normal, hoping to find hidden changes in their brain tissue that might explain their seizures and help improve their treatment options.
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.