Investigating the role of filamin A in neurological disorders like tuberous sclerosis complex and focal cortical dysplasia.
Filamin A in TSC and FCDII
This study is looking at how a protein called filamin A affects brain disorders like tuberous sclerosis complex and focal cortical dysplasia, with the goal of finding new ways to help reduce seizures and improve the lives of people with these conditions.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Yale University NIH-funded |
| Lab location | 1 site (New Haven, United States) |
| Project ID | NIH-11117887 on NIH RePORTER |
What this research studies
This research focuses on understanding how filamin A, a protein involved in cell structure, contributes to neurological disorders such as tuberous sclerosis complex (TSC) and focal cortical dysplasia type II (FCDII). The study aims to explore the molecular mechanisms behind these conditions, particularly how mutations in the mTOR pathway lead to hyperactivity and seizures. By examining the effects of normalizing filamin A function in mouse models, the researchers hope to identify new therapeutic targets that could reduce seizure activity and improve patient outcomes.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with tuberous sclerosis complex or focal cortical dysplasia type II who experience frequent seizures.
Not a fit: Patients with other types of epilepsy not related to TSC or FCDII may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatment options that significantly reduce seizures in patients with TSC and FCDII.
How similar studies have performed: Previous research has shown promising results in targeting similar pathways for seizure reduction, suggesting that this approach may hold potential for success.
Where this research is happening
New Haven, United States
- Yale University — New Haven, United States (Active)
Researchers
- Principal investigator: Bordey, Angelique — Yale University
- Study coordinator: Bordey, Angelique
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.