Patchy (mosaic) genetic changes in focal epilepsy
Official title: Human Epilepsy Genetics - Mosaic Mutations in Focal Epilepsy
Funded at Boston Children's Hospital · NIH-11238895 · Data updated 2026-11-12
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.
Quick facts
| Grant type | R37 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston Children's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project start | December 1, 1997 |
| Project end | November 30, 2028 |
| Funding year | 2026 |
| Award (this year) | $855,104 |
| NIH project number | 5R37NS035129-27 |
| Project ID | NIH-11238895 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are adolescents and adults with medically refractory mesial temporal lobe epilepsy who are undergoing or have had brain tissue resected for seizure control.
✕Less likely to help
People with generalized epilepsy, those whose seizures are well controlled by medication, or individuals not having brain surgery are unlikely to receive direct benefit from participation.
What this research studies
I would be asked whether genetic changes that occur in only some brain cells help cause focal mesial temporal lobe epilepsy (mTLE). Researchers sequence DNA from brain tissue removed during epilepsy surgery and compare it to blood to find mutations that are only in the brain. They focus on genes in the RAS signaling pathway but will look more broadly to find other genetic regulators. The team will analyze many more resected samples to confirm earlier findings and to see if specific mutations relate to outcomes and treatment options.
Why it matters
Potential benefit: If successful, this work could explain why some focal epilepsies are resistant to drugs and point toward more targeted treatments or better surgical decisions.
How similar studies have gone: Earlier small studies of resected epilepsy tissue have found somatic RAS-pathway mutations in some cases, so these results extend promising but still early findings.
Where this research is happening
-
Boston Children's Hospital
Boston, United States Active
Researchers
- Principal investigator: Walsh, Christopher a. — Boston Children's Hospital
- Study coordinator: Walsh, Christopher a.
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.
-
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.
-
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.