Investigating a gene's role in a rare brain disorder affecting neuron migration
Official title: Study of Nedd4L in Periventricular Nodular Heterotopia
Funded at University of Illinois at Urbana-Champaign · NIH-10883914 · Data updated 2026-11-12
This study is looking at how changes in a specific gene might affect brain development in people with periventricular nodular heterotopia (PNH), a condition that can cause seizures and learning challenges, to help us better understand what causes these issues.
Quick facts
| Grant type | R03 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Illinois at Urbana-Champaign NIH-funded |
| Lab location | 1 site (Champaign, United States) |
| Project start | March 15, 2024 |
| Project end | February 28, 2026 |
| Funding year | 2024 |
| Award (this year) | $147,937 |
| NIH project number | 1R03NS137490-01A1 |
| Project ID | NIH-10883914 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are adolescents aged 12-20 who have been diagnosed with periventricular nodular heterotopia.
✕Less likely to help
Patients who do not have periventricular nodular heterotopia or related neurological disorders may not benefit from this research.
What this research studies
This research focuses on periventricular nodular heterotopia (PNH), a neurological disorder that arises from improper neuron migration during brain development. The study aims to understand the role of the Nedd4L gene, which has been linked to PNH through mutations. Researchers will explore how these mutations affect the phosphorylation of cofilin, a protein involved in the structure of neurons, and how this impacts neuronal migration. By identifying the mechanisms involved, the research seeks to provide insights into the underlying causes of PNH and its associated symptoms, such as seizures and learning disorders.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and potential treatments for individuals with PNH, particularly those experiencing seizures and learning difficulties.
How similar studies have gone: While research on PNH is limited, previous studies have shown promising results in understanding related genetic mechanisms, suggesting potential for success in this area.
Where this research is happening
-
University of Illinois at Urbana-Champaign
Champaign, United States Active
Researchers
- Principal investigator: Tsai, Nien-Pei — University of Illinois at Urbana-Champaign
- Study coordinator: Tsai, Nien-Pei
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.