Investigating how specific cell types contribute to KCNT1-related childhood epilepsy
Official title: Cell Type-Specific Roles of the Na-Activated K Current in KCNT1-Related Epilepsy
Funded at Virginia Polytechnic Inst and St Univ · NIH-10985004 · Data updated 2026-11-12
This study is looking at how changes in the KCNT1 gene might cause severe epilepsy in children by using mice that have similar gene variations, and it aims to find out how these changes affect brain cells and could lead to seizures, with hopes of discovering new treatments.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Virginia Polytechnic Inst and St Univ NIH-funded |
| Lab location | 1 site (Blacksburg, United States) |
| Project start | December 1, 2022 |
| Project end | November 30, 2027 |
| Funding year | 2025 |
| Award (this year) | $360,000 |
| NIH project number | 5R01NS130042-04 |
| Project ID | NIH-10985004 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children diagnosed with KCNT1-related epilepsy or those with similar genetic variants causing severe epilepsy.
✕Less likely to help
Patients with epilepsy not related to KCNT1 variants or those with other underlying causes may not benefit from this research.
What this research studies
This research focuses on understanding the role of the KCNT1 gene, which is linked to severe childhood epilepsy disorders. By creating mouse models with human-like KCNT1 variants, the researchers aim to explore how these genetic changes affect the excitability of different types of neurons in the brain. The study will assess how these changes lead to seizures and other symptoms of epilepsy, using advanced techniques to measure neuronal activity and the effects of new inhibitors designed to target KCNT1 channels. The goal is to uncover the mechanisms behind these disorders and identify potential therapeutic targets.
Why it matters
Potential benefit: If successful, this research could lead to new treatments for childhood epilepsy that are currently difficult to manage.
How similar studies have gone: Previous research has shown promising results in understanding the role of ion channels in epilepsy, suggesting that this approach could yield valuable insights.
Where this research is happening
-
Virginia Polytechnic Inst and St Univ
Blacksburg, United States Active
Researchers
- Principal investigator: Weston, Matthew C — Virginia Polytechnic Inst and St Univ
- Study coordinator: Weston, Matthew C
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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.