How losing the NPRL2 gene leads to focal cortical dysplasia and seizures
The role of NPRL2 loss in focal cortical dysplasia
This project looks at how loss of the NPRL2 gene in the brain causes focal cortical dysplasia, a condition that can lead to seizures in children and adults.
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 ID | NIH-11307619 on NIH RePORTER |
What this research studies
If you have focal cortical dysplasia or epilepsy, this work aims to recreate the NPRL2-related brain changes using lab-grown cells and animal models to better mirror what happens in patients. Researchers will study how losing NPRL2 activates the mTOR pathway and which genes change their activity as a result. They will compare those lab findings to human brain tissue with similar mutations to connect the biology to real patient cases. The team hopes these molecular signatures will point toward treatments or identify people who might respond to mTOR-blocking drugs.
Who could benefit from this research
Good fit: People with focal cortical dysplasia or unexplained epilepsy linked to NPRL2 or related GATOR1 genes (DEPDC5, NPRL3) would be most relevant to this work.
Not a fit: Patients whose seizures are caused by conditions unrelated to the mTOR pathway or who need immediate clinical treatment are unlikely to gain direct benefit from this basic research right away.
Why it matters
Potential benefit: If successful, the findings could point to molecular targets and support using or developing therapies (including mTOR inhibitors) for seizures caused by NPRL2-related focal cortical dysplasia.
How similar studies have performed: Work on related GATOR1 genes (DEPDC5, NPRL3) and mTOR-driven disorders has linked mTOR hyperactivity to seizures and some mTOR inhibitors help in related conditions, but functional studies focused specifically on NPRL2 are limited and this is a relatively novel line of work.
Where this research is happening
Baltimore, United States
- 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 below.