Exploring epilepsy genes in zebrafish to understand human brain seizures
Official title: Evaluating Candidate Genes for Evidence of Epilepsy
Funded at Boston Children's Hospital · NIH-11609190 · Data updated 2026-11-12
A study in zebrafish will model human epilepsy genes to help explain how certain brain mutations contribute to seizures.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston Children's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project start | September 1, 2026 |
| Project end | August 31, 2027 |
| Funding year | 2026 |
| Award (this year) | $577,573 |
| NIH project number | 1R56NS150428-01 |
| Project ID | NIH-11609190 on NIH RePORTER |
Who could benefit from this research
✓Could help
Patients with focal epilepsy linked to mosaic or de novo mutations in mTOR pathway genes may benefit from advances informed by these models.
✕Less likely to help
The study is experimental and may not directly translate to immediate treatments for every epilepsy patient.
What this research studies
Researchers will create zebrafish models that mimic human epilepsy mutations in AKT1, AKT3, PIK3CA, MTOR, and related genes to study how these changes drive seizure activity. They will generate both activating and loss-of-function variants to compare effects on brain development and neural activity. By observing brain signals and behavior in these mosaic models, the team hopes to uncover how specific genetic changes lead to epileptic traits and identify potential points for intervention.
Why it matters
Potential benefit: If successful, this work could reveal targets for therapies that specifically address genetic forms of epilepsy.
How similar studies have gone: Prior work showed zebrafish can model human disease genes and reveal functional effects relevant to epilepsy, supporting this approach.
Where this research is happening
-
Boston Children's Hospital
Boston, United States Active
Researchers
- Principal investigator: Poduri, Annapurna — Boston Children's Hospital
- Study coordinator: Poduri, Annapurna
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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.