Role of ATP1A3 mutations in sudden death related to epilepsy
Official title: Exploring the role of ATP1A3 mutations in sudden unexplained death in epilepsy
Funded at Children's Hosp of Philadelphia · NIH-11591244 · Data updated 2026-11-12
Aims to understand how ATP1A3 gene changes may lead to sudden death in kids with epilepsy and is exploring new ways to prevent it.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Hosp of Philadelphia NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project start | August 22, 2022 |
| Project end | June 30, 2027 |
| Funding year | 2026 |
| Award (this year) | $601,068 |
| NIH project number | 7R01HL160654-05 |
| Project ID | NIH-11591244 on NIH RePORTER |
Who could benefit from this research
✓Could help
Children with epilepsy, especially those with suspected ATP1A3-related conditions, and their families.
✕Less likely to help
Children without epilepsy or without ATP1A3-related risk may not benefit.
What this research studies
This project studies how genetic changes in ATP1A3 may cause dangerous heart rhythms in children with epilepsy. Researchers are building and testing lab models, including patient-derived heart cells and mouse models, to link ATP1A3 variants to bradycardia and arrhythmias. The goal is to uncover targets for new therapies that could reduce the risk of SUDEP in affected patients. Results could guide future trials and personalized approaches for high-risk children.
Why it matters
Potential benefit: If successful, this work could lead to new treatments or preventive strategies to lower SUDEP risk in children with ATP1A3-related epilepsy.
How similar studies have gone: Similar studies using hiPSC-derived cardiomyocytes and animal models have shown links between ATP1A3 variants and arrhythmias, supporting this approach.
Where this research is happening
-
Children's Hosp of Philadelphia
Philadelphia, United States Active
Researchers
- Principal investigator: Landstrom, Andrew P. — Children's Hosp of Philadelphia
- Study coordinator: Landstrom, Andrew P.
Related research
Other NIH-funded projects on the same topics.
-
Scaling Up Task-Shifted Epilepsy Care for Children in Africa
A study to help children with epilepsy in Africa get diagnosed and receive seizure care through trained community health workers.
-
Closed-loop control of interneuron timing to influence seizures and memory in epilepsy
A study tests a brain-quieting system that uses light to precisely time certain brain cells in epilepsy-prone mice to see if this can lessen seizures and improve memory.
-
Epilepsy Data Ecosystem: A Big-Data Sharing Platform for Better Care
A national effort to collect and share large, multi‑modal brain data from people with medication‑resistant epilepsy to speed discoveries and improve treatment options.
-
Exploring epilepsy genes in zebrafish to understand human brain seizures
A study in zebrafish will model human epilepsy genes to help explain how certain brain mutations contribute to seizures.
-
New MRI tools to better plan pediatric epilepsy surgery
A new MRI-based approach helps doctors decide the best time to surgically remove brain tissue in children with difficult-to-control seizures.
-
Sahel Epilepsy Study: finding patterns in epilepsy in rural Africa and its links to genes
A plan to study epilepsy in rural Nigeria to discover how common it is, what factors affect risk, and how genetics may influence it, with results that could improve care for people with epilepsy.
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.