Understanding how certain genetic changes in SCN2A cause early-onset epilepsy
Multi-scale disease modeling of SCN2A-related epilepsy due to gain-of-function variants
This study is looking at how certain changes in the SCN2A gene affect brain cells and contribute to early-onset epilepsy, with the hope that understanding these changes will help improve treatment options for patients with this condition.
Quick facts
| Grant type | Career grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Northwestern University at Chicago NIH-funded |
| Lab location | 1 site (Chicago, United States) |
| Project ID | NIH-11060004 on NIH RePORTER |
What this research studies
This research investigates the role of gain-of-function variants in the SCN2A gene, which are linked to early-onset epilepsy. By using both animal and human neuron models, the study aims to uncover the mechanisms by which these genetic changes lead to dysfunction in excitatory neurons, contributing to epilepsy. The research focuses on understanding the differences in biophysical mechanisms between various SCN2A variants, which could provide insights into targeted treatments. Patients with SCN2A-related epilepsy may benefit from the findings as they could lead to better management strategies for their condition.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with early-onset epilepsy linked to SCN2A gain-of-function variants.
Not a fit: Patients with epilepsy not associated with SCN2A variants or those with late-onset epilepsy may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and treatment options for patients with SCN2A-related early-onset epilepsy.
How similar studies have performed: Previous research has shown success in using animal models to understand genetic contributions to epilepsy, indicating that this approach has potential for meaningful insights.
Where this research is happening
Chicago, United States
- Northwestern University at Chicago — Chicago, United States (Active)
Researchers
- Principal investigator: Adney, Scott K. — Northwestern University at Chicago
- Study coordinator: Adney, Scott K.
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.