Understanding how specific genetic changes in potassium channels affect neurological disorders
Official title: A molecular dissection of BK channelopathy in neurological disorders
Funded at Washington University · NIH-11167359 · Data updated 2026-11-12
This study is looking at how certain changes in a gene related to brain function might affect people with absence epilepsy, with the goal of finding better ways to diagnose and treat this condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Washington University NIH-funded |
| Lab location | 1 site (Saint Louis, United States) |
| Project start | April 21, 2025 |
| Project end | March 31, 2030 |
| Funding year | 2025 |
| Award (this year) | $655,968 |
| NIH project number | 1R01NS138258-01A1 |
| Project ID | NIH-11167359 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals diagnosed with absence epilepsy or other neurological disorders associated with KCNMA1 channelopathies.
✕Less likely to help
Patients without KCNMA1 variants or those with unrelated neurological conditions may not benefit from this research.
What this research studies
This research investigates the role of specific genetic variants in the KCNMA1 gene, which encodes a potassium channel crucial for brain function. By examining how these variants influence neuronal activity and clinical symptoms in conditions like absence epilepsy, the study aims to develop tailored diagnostic and treatment strategies. The research involves detailed molecular analysis and behavioral studies in mouse models to understand the effects of these genetic changes. Patients may benefit from insights that lead to more personalized approaches to managing their neurological disorders.
Why it matters
Potential benefit: If successful, this research could lead to more precise diagnoses and targeted treatments for patients with neurological disorders linked to KCNMA1 variants.
How similar studies have gone: Previous research has shown promising results in understanding channelopathies and their impact on neurological disorders, indicating that this approach has potential for success.
Where this research is happening
-
Washington University
Saint Louis, United States Active
Researchers
- Principal investigator: Cui, Jianmin — Washington University
- Study coordinator: Cui, Jianmin
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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.