Understanding the role of specific proteins in childhood epilepsy
Official title: Identification and functional analysis of A-tubule MIPs
Funded at Santa Clara University · NIH-10292103 · Data updated 2026-11-12
This study is looking into juvenile myoclonic epilepsy (JME) in kids by examining a specific gene that helps with tiny hair-like structures in the body, which are important for many functions; understanding how these structures work could help us learn more about what causes JME and similar conditions.
Quick facts
| Grant type | R15 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Santa Clara University NIH-funded |
| Lab location | 1 site (Santa Clara, United States) |
| Project start | August 1, 2021 |
| Project end | July 31, 2025 |
| Funding year | 2021 |
| Award (this year) | $407,661 |
| NIH project number | 1R15GM143703-01 |
| Project ID | NIH-10292103 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children aged 0-21 who have been diagnosed with juvenile myoclonic epilepsy or related ciliopathies.
✕Less likely to help
Patients with epilepsy not linked to ciliary dysfunction or those outside the age range of 0-21 may not benefit from this research.
What this research studies
This research investigates juvenile myoclonic epilepsy (JME), a common inherited form of epilepsy in children, by exploring the molecular mechanisms behind it. The focus is on a gene that encodes a protein crucial for the function of motile cilia, which are essential for various bodily functions. By using advanced imaging techniques, the study aims to identify and analyze proteins that are vital for the stability and function of these cilia. This could lead to a better understanding of how defects in cilia contribute to epilepsy and other related disorders.
Why it matters
Potential benefit: If successful, this research could lead to new insights and potential treatments for children suffering from juvenile myoclonic epilepsy and related conditions.
How similar studies have gone: Previous research has established genetic links between ciliary function and epilepsy, indicating a promising avenue for further exploration.
Where this research is happening
-
Santa Clara University
Santa Clara, United States Active
Researchers
- Principal investigator: Bayless, Brian Anthony — Santa Clara University
- Study coordinator: Bayless, Brian Anthony
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.