Understanding genetic factors in sudden unexpected death in epilepsy
Exploring the role of ATP1A3 mutations in sudden unexplained death in epilepsy
This research explores how specific genetic changes in the ATP1A3 gene might contribute to sudden unexpected death in people with epilepsy, particularly those with Alternating Hemiplegia of Childhood.
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-11128686 on NIH RePORTER |
What this research studies
Sudden unexpected death in epilepsy (SUDEP) is a serious concern for people with epilepsy, often linked to heart and brain issues. This project focuses on a specific gene, ATP1A3, which is known to be altered in many patients with Alternating Hemiplegia of Childhood (AHC), a condition that includes epilepsy and a high risk of sudden death. Researchers have observed a connection between a common ATP1A3 gene change and heart rhythm problems, like a short QT interval and dangerous heartbeats during slow heart rates. They are using specialized heart cells grown from human stem cells of a child with this genetic change, as well as animal models, to understand how these gene changes lead to heart issues that could cause sudden death. The goal is to create a reliable way to study these problems, which could help in developing new medicines to prevent these tragic events.
Who could benefit from this research
Good fit: This research is relevant to patients with epilepsy, particularly those diagnosed with Alternating Hemiplegia of Childhood (AHC) and known ATP1A3 gene mutations.
Not a fit: Patients whose epilepsy is not linked to ATP1A3 gene mutations or sudden unexplained death may not directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could lead to new medications or treatments to prevent sudden unexpected death in epilepsy patients, especially those with ATP1A3 gene mutations.
How similar studies have performed: While the specific link between ATP1A3 mutations and cardiac arrhythmias in SUDEP is a novel focus, previous research has established the role of genetic factors in epilepsy and cardiac conditions.
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.