Investigating how ATP1A3 gene mutations contribute to sudden unexplained death in epilepsy.
Exploring the role of ATP1A3 mutations in sudden unexplained death in epilepsy
This study is looking into why some children with a specific gene mutation might experience sudden unexplained death due to epilepsy, and it aims to find out how this mutation affects their heart and seizure risks, using special lab models to help understand the problem better.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Duke University NIH-funded |
| Lab location | 1 site (Durham, United States) |
| Project ID | NIH-10875465 on NIH RePORTER |
What this research studies
This research focuses on understanding the genetic and physiological factors that lead to sudden unexplained death in epilepsy (SUDEP), particularly in children with a specific mutation in the ATP1A3 gene. By creating experimental models that mimic the cardiac and neurological conditions associated with SUDEP, the researchers aim to uncover the mechanisms that trigger fatal arrhythmias during seizures. The study utilizes advanced techniques, including human induced pluripotent stem cells and genetically modified mice, to explore how these mutations affect heart function and seizure-related risks.
Who could benefit from this research
Good fit: Ideal candidates for this research are children under 11 years old who have epilepsy and carry mutations in the ATP1A3 gene.
Not a fit: Patients without ATP1A3 mutations or those who do not have epilepsy may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that prevent sudden unexplained deaths in children with epilepsy.
How similar studies have performed: Previous research has shown promising results in understanding genetic factors related to cardiac arrhythmias in epilepsy, suggesting that this approach may yield valuable insights.
Where this research is happening
Durham, United States
- Duke University — Durham, United States (Active)
Researchers
- Principal investigator: Landstrom, Andrew P. — Duke University
- Study coordinator: Landstrom, Andrew P.
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.