Understanding SCN8A encephalopathy and its treatment options
Official title: SCN8A encephalopathy: disease mechanisms and treatment
Funded at Emory University · NIH-11051876 · Data updated 2026-11-12
This study is looking into how changes in the SCN8A gene affect brain function in people with SCN8A encephalopathy, which is related to epilepsy, autism, and learning challenges, to find better treatments for those with these gene mutations.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Emory University NIH-funded |
| Lab location | 1 site (Atlanta, United States) |
| Project start | March 1, 2023 |
| Project end | February 29, 2028 |
| Funding year | 2025 |
| Award (this year) | $470,230 |
| NIH project number | 5R01NS126392-03 |
| Project ID | NIH-11051876 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals diagnosed with SCN8A mutations who experience epilepsy, autism, or related developmental challenges.
✕Less likely to help
Patients without SCN8A mutations or those with unrelated neurological conditions may not benefit from this research.
What this research studies
This research investigates the mechanisms behind SCN8A encephalopathy, a condition linked to epilepsy, autism, and intellectual disabilities. The team will explore how mutations in the SCN8A gene affect brain function and contribute to various clinical features. By studying specific cell types and brain regions, the research aims to identify effective therapies tailored to patients with SCN8A mutations. This approach combines genetic analysis with behavioral assessments to better understand the condition.
Why it matters
Potential benefit: If successful, this research could lead to more effective treatments for patients with SCN8A-related disorders, improving their quality of life.
How similar studies have gone: Previous research has shown promise in understanding genetic contributions to epilepsy, suggesting that this approach could yield valuable insights.
Where this research is happening
-
Emory University
Atlanta, United States Active
Researchers
- Principal investigator: Escayg, Andrew P — Emory University
- Study coordinator: Escayg, Andrew P
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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.