Investigating the impact of NPRL2 loss on brain malformations and epilepsy
Official title: The role of NPRL2 loss in focal cortical dysplasia
Funded at University of Maryland Baltimore · NIH-11064811 · Data updated 2026-11-12
This study is looking at how the missing NPRL2 gene affects brain development in people with focal cortical dysplasia (FCD), a condition that can cause severe epilepsy, to find new ways to help those who have limited treatment options.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Maryland Baltimore NIH-funded |
| Lab location | 1 site (Baltimore, United States) |
| Project start | April 15, 2023 |
| Project end | March 31, 2028 |
| Funding year | 2025 |
| Award (this year) | $347,625 |
| NIH project number | 5R01NS131223-03 |
| Project ID | NIH-11064811 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children and adults diagnosed with focal cortical dysplasia or related neurodevelopmental disorders.
✕Less likely to help
Patients without a diagnosis of focal cortical dysplasia or those whose conditions are unrelated to mTOR pathway dysregulation may not benefit from this research.
What this research studies
This research focuses on understanding how the loss of the NPRL2 gene affects brain development, particularly in conditions known as focal cortical dysplasia (FCD), which can lead to severe epilepsy. By studying brain tissue samples and using laboratory models, the researchers aim to uncover the molecular changes that occur when NPRL2 is absent. This could help identify new treatment strategies for patients with FCD who currently have limited options. The study will explore the role of the mTOR signaling pathway, which is crucial for cell growth and function in the brain.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic approaches for treating epilepsy associated with focal cortical dysplasia.
How similar studies have gone: While there have been studies on other genes in the mTOR pathway, the specific investigation of NPRL2 is relatively novel and has not been extensively validated in prior research.
Where this research is happening
-
University of Maryland Baltimore
Baltimore, United States Active
Researchers
- Principal investigator: Iffland, Philip Henry — University of Maryland Baltimore
- Study coordinator: Iffland, Philip Henry
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.