Understanding genetic mutations in difficult-to-treat focal epilepsy
Somatic Mutation in Intractable 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.
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 ID | NIH-10892800 on NIH RePORTER |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with intractable focal epilepsy who have normal structural brain imaging.
Not a fit: Patients with focal epilepsy that is easily identifiable through structural imaging or those with other types of epilepsy may not benefit from this research.
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 performed: 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
New York, United States
- Columbia University Health Sciences — New York, United States (Active)
Researchers
- Principal investigator: Winawer, Melodie Rose — Columbia University Health Sciences
- Study coordinator: Winawer, Melodie Rose
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 below.