Understanding brain overactivity and seizures in SCN2A-related autism
Neuronal hyperexcitability and seizures in a Scn2a deficient mouse model
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 ID | NIH-11075268 on NIH RePORTER |
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.
Who could benefit from this research
Good fit: This research is relevant to patients, especially children, diagnosed with autism spectrum disorder who have SCN2A gene changes and experience seizures.
Not a fit: Patients whose seizures are not related to SCN2A gene changes may not directly benefit from this specific research.
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 performed: 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
West Lafayette, United States
- Purdue University — West Lafayette, United States (Active)
Researchers
- Principal investigator: Yang, Yang — Purdue University
- Study coordinator: Yang, Yang
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.