Understanding brain overactivity and seizures in SCN2A-related autism
Official title: Neuronal hyperexcitability and seizures in a Scn2a deficient mouse model
Funded at Purdue University · NIH-11075268 · Data updated 2026-11-12
This project aims to understand why some children with autism who have changes in their SCN2A gene also experience difficult-to-control seizures.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Purdue University NIH-funded |
| Lab location | 1 site (West Lafayette, United States) |
| Project start | July 15, 2021 |
| Project end | April 30, 2027 |
| Funding year | 2025 |
| Award (this year) | $387,500 |
| NIH project number | 5R01NS123154-05 |
| Project ID | NIH-11075268 on NIH RePORTER |
Who could benefit from this research
✓Could help
This research is relevant to patients, especially children, diagnosed with autism spectrum disorder who have SCN2A gene changes and experience seizures.
✕Less likely to help
Patients whose seizures are not related to SCN2A gene changes may not directly benefit from this specific research.
What this research studies
We know that changes in the SCN2A gene can lead to autism, and sometimes these changes also cause severe seizures in children. It's not yet clear why these seizures happen, which makes finding effective treatments challenging. This work uses a special mouse model that has a similar SCN2A gene change to help us learn more about this connection. By studying brain cells in these mice, we hope to discover the underlying reasons for this brain overactivity and seizure risk, ultimately guiding future therapies.
Why it matters
Potential benefit: If successful, this work could lead to a better understanding of why seizures occur in SCN2A-related autism, paving the way for new and more effective treatments.
How similar studies have gone: While the link between SCN2A and both autism and epilepsy is known, the specific finding of neuronal hyperexcitability in SCN2A deficiency is an unexpected discovery that opens new avenues for understanding.
Where this research is happening
-
Purdue University
West Lafayette, United States Active
Researchers
- Principal investigator: Yang, Yang — Purdue University
- Study coordinator: Yang, Yang
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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.