Understanding how gene mutations cause epilepsy
Cell Systems to Pre-Clinical Models
This study is looking at how certain gene changes might be linked to epilepsy, using advanced DNA testing to better understand these changes, and it could help improve how we diagnose and treat the condition for patients like you.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Michigan at Ann Arbor NIH-funded |
| Lab location | 1 site (Ann Arbor, United States) |
| Project ID | NIH-10873147 on NIH RePORTER |
What this research studies
This research investigates the relationship between specific gene mutations and epilepsy, particularly focusing on genetic variants that are not well understood. By utilizing advanced DNA sequencing techniques, the team aims to identify and assess the functional impact of these genetic variants. The research involves both laboratory experiments with cell systems and in vivo assessments in model organisms to provide a comprehensive understanding of how these mutations contribute to epilepsy. Patients may benefit from improved diagnostic and treatment strategies based on the findings.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with epilepsy who have genetic variants of uncertain significance.
Not a fit: Patients with epilepsy caused by well-characterized genetic mutations may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to more accurate diagnoses and targeted treatments for patients with epilepsy.
How similar studies have performed: Other research has shown promise in using genetic sequencing to understand epilepsy, but this approach aims to refine and expand upon those findings.
Where this research is happening
Ann Arbor, United States
- University of Michigan at Ann Arbor — Ann Arbor, United States (Active)
Researchers
- Principal investigator: Wang, Yu — University of Michigan at Ann Arbor
- Study coordinator: Wang, Yu
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.