Mapping hidden brain cell changes in drug-resistant epilepsy
Official title: Deciphering brain mosaicism in drug-resistant epilepsy at cellular resolution
Funded at Research Inst Nationwide Children's Hosp · NIH-11263699 · Data updated 2026-11-12
This project looks for tiny genetic changes in brain cells of children with drug-resistant epilepsy caused by brain malformations to help guide better diagnosis and treatments.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Research Inst Nationwide Children's Hosp NIH-funded |
| Lab location | 1 site (Columbus, United States) |
| Project start | March 1, 2023 |
| Project end | December 31, 2027 |
| Funding year | 2026 |
| Award (this year) | $544,016 |
| NIH project number | 5R01NS129784-04 |
| Project ID | NIH-11263699 on NIH RePORTER |
Who could benefit from this research
✓Could help
Children and young people with focal malformations of cortical development and drug-resistant seizures who are being evaluated for or undergoing epilepsy surgery are the most likely candidates.
✕Less likely to help
People with generalized epilepsy, seizures not caused by cortical malformations, or those who are not surgical candidates are less likely to benefit directly from this project.
What this research studies
If you join, doctors will analyze tissue from epilepsy surgery using very sensitive genetic methods to find rare mutations present only in some brain cells. They will use single-cell sequencing to identify which kinds of brain cells carry those mutations and how the mutations change gene activity. The team will then test those mutations in lab cell models that match the affected cell types to see how they affect cell function. This approach aims to link specific cell-level changes to seizure causes so future care can be more precise.
Why it matters
Potential benefit: If successful, this work could help diagnose hidden genetic causes of drug-resistant epilepsy and point toward more targeted treatments for affected patients.
How similar studies have gone: Previous studies have found somatic mutations in malformations of cortical development and single-cell methods are promising, but applying them to map cell-type-specific effects and perform functional validation is a relatively new approach.
Where this research is happening
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Research Inst Nationwide Children's Hosp
Columbus, United States Active
Researchers
- Principal investigator: Bedrosian, Tracy Ann — Research Inst Nationwide Children's Hosp
- Study coordinator: Bedrosian, Tracy Ann
Related research
Other NIH-funded projects on the same topics.
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Single-pulse brain stimulation to improve epilepsy surgery outcomes
A new approach uses single-pulse electrical stimulation to better locate seizure-causing brain regions before epilepsy surgery, with the goal of improving chances of seizure freedom.
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New MRI markers to find seizure zones in hard-to-treat epilepsy
Aims to use advanced MRI measures of brain stiffness and blood flow to better locate seizure regions in people with drug-resistant epilepsy.
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Finding seizure-causing brain regions in drug-resistant epilepsy using computer models
This project uses computer models of brain activity to help doctors find the areas that start seizures in people whose epilepsy does not respond to medicines.
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Noninvasive brain mapping to find seizure networks in children with hard-to-treat epilepsy
This project uses noninvasive brain recordings and connectivity maps to help locate seizure-causing networks in children whose epilepsy does not respond to medication.
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Closed-loop implant to target seizure-related high-frequency brain waves in drug-resistant epilepsy
An implantable device will try to find and interrupt seizure-related high-frequency brain waves in people whose seizures don't respond to medicines.
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Improving care for patients with drug-resistant epilepsy
This study is all about creating a helpful mobile app that makes it easier for people with drug-resistant epilepsy to share what matters most to them with their doctors, like their mental health and daily life, so they can work together to improve their overall care.
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.