Brainstem breathing neurons and sudden unexpected death in epilepsy
Role of brainstem cardiorespiratory neurons in SUDEP
This project looks at whether faulty brainstem breathing cells cause dangerous breathing stoppage after seizures in people with epilepsy, especially those with SCN8A mutations.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Virginia NIH-funded |
| Lab location | 1 site (Charlottesville, United States) |
| Project ID | NIH-11238558 on NIH RePORTER |
What this research studies
Researchers are using mouse models that carry the same SCN8A gene mutations found in some people who died from SUDEP to study how seizures lead to breathing failure. They will record breathing, oxygen levels, and brainstem neuron activity during and after seizures and watch for apnea that comes before heart stoppage. The team will test interventions in mice to restore normal breathing after seizures to see if SUDEP can be prevented. The findings aim to point toward drugs or emergency therapies that could protect breathing in high‑risk patients.
Who could benefit from this research
Good fit: People with epilepsy who experience convulsive seizures and those with SCN8A-related epileptic encephalopathy would be the most directly relevant candidates for related trials or follow‑up studies.
Not a fit: Patients without convulsive seizures or apnea during seizures and those whose epilepsy is well controlled are less likely to see direct benefit from these specific findings.
Why it matters
Potential benefit: If successful, this work could point to treatments or rescue strategies that prevent seizure‑related breathing collapse and reduce SUDEP risk.
How similar studies have performed: Previous human monitoring (MORTEMUS) and animal studies have linked post‑seizure apnea to SUDEP, but applying SCN8A patient‑derived mouse models to pinpoint brainstem neuron mechanisms and test lifesaving rescues is relatively novel.
Where this research is happening
Charlottesville, United States
- University of Virginia — Charlottesville, United States (Active)
Researchers
- Principal investigator: Patel, Manoj K — University of Virginia
- Study coordinator: Patel, Manoj 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.