Exploring how SCN8A affects severe seizure disorders and motor function
Understanding the role of SCN8A in developmental and epileptic encephalopathy
This study is looking at how changes in the SCN8A gene might cause serious seizure disorders and developmental challenges, using a special mouse model to help us understand these issues better, which could eventually lead to new treatments for people affected by these conditions.
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-11040302 on NIH RePORTER |
What this research studies
This research investigates the role of the SCN8A gene in developmental and epileptic encephalopathies (DEEs), which are severe seizure disorders that often lead to significant developmental delays and motor impairments. By using a novel mouse model that mimics the human condition, the study aims to understand how specific mutations in the SCN8A gene contribute to these symptoms. The researchers will analyze the effects of these mutations on motor neuron activity and muscle function, providing insights that could lead to new therapeutic approaches for affected individuals.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with SCN8A-related developmental and epileptic encephalopathies, particularly those experiencing severe seizures and motor impairments.
Not a fit: Patients with seizure disorders not related to the SCN8A gene or those without significant motor impairments may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved treatments for patients with SCN8A-related developmental and epileptic encephalopathies, potentially enhancing their quality of life.
How similar studies have performed: While research on SCN8A has been ongoing, this specific approach using a novel mouse model to study motor impairment is relatively new and untested.
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.