SCN8A-related epilepsy with seizures and movement problems
Understanding the role of SCN8A in developmental and epileptic encephalopathy
Using a new mouse model with a patient SCN8A mutation to learn how the gene change leads to seizures and persistent muscle weakness in people with SCN8A-related developmental and epileptic encephalopathy.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Ohio State University NIH-funded |
| Lab location | 1 site (Columbus, UNITED STATES) |
| Project ID | NIH-11261066 on NIH RePORTER |
What this research studies
If I or my child has SCN8A DEE, this research uses a mouse model carrying the T767I patient mutation to find out why some people develop severe motor weakness as well as seizures. The team will record spinal motor neuron activity and measure motor unit and muscle function to see how the mutation disrupts nerve-to-muscle signaling. They will compare this T767I model to other SCN8A models to pinpoint mechanisms behind non-ambulatory status and early lethality. Results will help guide targeted treatments, including testing antisense oligonucleotide (ASO) approaches in future preclinical or clinical work.
Who could benefit from this research
Good fit: People diagnosed with SCN8A-related developmental and epileptic encephalopathy, especially those with gain-of-function missense mutations like T767I, are most relevant.
Not a fit: People whose epilepsy is caused by other genes or by non-genetic causes are unlikely to benefit directly from this work.
Why it matters
Potential benefit: Could point to targeted therapies, such as ASO treatments, that reduce seizures and improve movement for people with SCN8A DEE.
How similar studies have performed: ASO treatments have shown promise in some other genetic epilepsies, but applying ASOs to SCN8A is still early-stage and this T767I mouse model is a new resource.
Where this research is happening
Columbus, UNITED STATES
- Ohio State University — Columbus, United States (Active)
Researchers
- Principal investigator: Wagnon, Jacy Lee — Ohio State University
- Study coordinator: Wagnon, Jacy Lee
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.