Genes behind severe epilepsy — insights from mouse models
Genetic Determinants of Epilepsy in Murine Systems
Using mice that carry epilepsy-linked gene changes, researchers are working to guide gene therapy approaches that could help people with developmental and epileptic encephalopathies.
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-11142664 on NIH RePORTER |
What this research studies
The team uses mice engineered with the same genetic changes seen in people with developmental and epileptic encephalopathies (DEE) to observe how those genes affect seizures and development. They deliver gene-replacement or gene-silencing approaches to mice at different ages and via different routes, and use new methods to detect epileptiform activity and developmental milestones in pups. The researchers also monitor for unintended effects on other brain cell types to better understand safety risks. Findings are intended to inform the best timing, delivery method, and safety measures before moving toward human applications.
Who could benefit from this research
Good fit: People with developmental and epileptic encephalopathies caused by known genetic mutations, and families affected by such diagnoses, would be most relevant to these results.
Not a fit: Individuals with epilepsy not driven by a single genetic mutation or those whose seizures are well controlled by standard treatments may not benefit from findings targeted at genetic DEE.
Why it matters
Potential benefit: If successful, this work could point to safer and more effective gene therapy approaches that reduce seizures and improve development for people with genetic DEE.
How similar studies have performed: Some preclinical gene therapy experiments in animal models have shown promise for certain epilepsy genes, but translating these methods into safe, effective human treatments remains largely unproven.
Where this research is happening
New York, United States
- Columbia University Health Sciences — New York, United States (Active)
Researchers
- Principal investigator: Sands, Tristan T — Columbia University Health Sciences
- Study coordinator: Sands, Tristan T
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.