Understanding SCN3A-related Developmental Epileptic Encephalopathy and Finding Better Treatments
Official title: Mechanisms and Treatment of SCN3A-Developmental and Epileptic Encephalopathy
Funded at Columbia University Health Sciences · NIH-11631660 · Data updated 2026-11-12
This NIH grant focuses on how SCN3A gene variants cause developmental epileptic encephalopathy and aims to develop more effective therapies for affected patients.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Columbia University Health Sciences NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project start | September 17, 2026 |
| Project end | August 31, 2027 |
| Funding year | 2026 |
| Award (this year) | $532,762 |
| NIH project number | 1R56NS146841-01A1 |
| Project ID | NIH-11631660 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are individuals with SCN3A-related developmental epileptic encephalopathy or related neonatal/early-life seizure disorders.
✕Less likely to help
Patients without SCN3A-DEE or without a genetic confirmation of SCN3A-related disease may not benefit directly.
What this research studies
SCN3A-DEE is a severe brain disorder in which early brain development and epileptic activity lead to developmental delays and other problems. The project aims to uncover how SCN3A variants disrupt nerve cell excitability and brain development, with a focus on how these changes start before normal synaptic transmission. Researchers will explore mechanisms in neurons and glial cells to identify targets for new treatments and improve existing therapies. The work is rooted in human disease biology, with potential implications for patients who have SCN3A-related symptoms. The study plans to translate mechanistic insights into better, more targeted interventions.
Why it matters
Potential benefit: If successful, the research could lead to therapies that specifically address the root causes of SCN3A-DEE and improve seizure control and developmental outcomes for patients.
How similar studies have gone: Previous work suggests that understanding SCN3A biology can inform targeted treatment strategies, but translational therapies are still in development.
Where this research is happening
-
Columbia University Health Sciences
New York, United States Active
Researchers
- Principal investigator: Makinson, Christopher D — Columbia University Health Sciences
- Study coordinator: Makinson, Christopher D
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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.