Understanding genetic mutations in difficult-to-treat focal epilepsy
Official title: Somatic Mutation in Intractable Focal Epilepsy
Funded at Columbia University Health Sciences · NIH-10892800 · Data updated 2026-11-12
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.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Columbia University Health Sciences NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project start | August 15, 2020 |
| Project end | July 31, 2025 |
| Funding year | 2024 |
| Award (this year) | $591,457 |
| NIH project number | 5R01NS114122-05 |
| Project ID | NIH-10892800 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with intractable focal epilepsy who have normal structural brain imaging.
✕Less likely to help
Patients with focal epilepsy that is easily identifiable through structural imaging or those with other types of epilepsy may not benefit from this research.
What this research studies
This research investigates the genetic basis of intractable focal epilepsy, particularly in patients whose brain imaging appears normal. It aims to identify somatic mutations that may contribute to seizure onset, even when no structural abnormalities are visible on standard MRI scans. By analyzing brain tissue samples and conducting deeper genetic sequencing, the study seeks to uncover the underlying causes of these seizures and improve treatment options. The findings could lead to better diagnostic and therapeutic strategies for patients suffering from this challenging condition.
Why it matters
Potential benefit: If successful, this research could lead to more effective treatments for patients with intractable focal epilepsy, improving their quality of life.
How similar studies have gone: Previous research has shown promise in identifying genetic mutations related to epilepsy, suggesting that this approach could yield valuable insights.
Where this research is happening
-
Columbia University Health Sciences
New York, United States Active
Researchers
- Principal investigator: Winawer, Melodie Rose — Columbia University Health Sciences
- Study coordinator: Winawer, Melodie Rose
Related research
Other NIH-funded projects on the same topics.
-
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.
-
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.
-
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.
-
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.
-
Understanding genetic changes in difficult-to-treat focal epilepsy
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.
-
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.
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.