Rabbit model of KCNH2-related epilepsy, SUDEP, and Long QT syndrome type 2
Official title: Development of a Genetic Rabbit Model of Kcnh2-Mediated Epilepsy, SUDEP, & Long QT Syndrome Type 2
Funded at Upstate Medical University · NIH-11331937 · Data updated 2026-11-12
Researchers are creating rabbits with a human-like KCNH2 gene change to help find safer seizure treatments and reduce sudden-death risk for people with KCNH2-related epilepsy and Long QT syndrome.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Upstate Medical University NIH-funded |
| Lab location | 1 site (Syracuse, United States) |
| Project start | September 1, 2023 |
| Project end | August 31, 2026 |
| Funding year | 2026 |
| Award (this year) | $215,118 |
| NIH project number | 5R33NS133273-04 |
| Project ID | NIH-11331937 on NIH RePORTER |
Who could benefit from this research
✓Could help
People with known KCNH2 (Kv11.1) variants—particularly pore‑domain mutations—and individuals diagnosed with Long QT syndrome type 2 who have or are at risk for seizures would be most relevant to this work.
✕Less likely to help
People whose epilepsy is caused by unrelated genes or non-genetic factors, or who do not have Long QT/KCNH2 variants, are unlikely to receive direct benefit from this specific model.
What this research studies
If you or a family member have a KCNH2 genetic change, this project will make rabbits carrying the same pore‑domain mutation using CRISPR gene editing so the animals more closely mimic the human condition. The team will study how the faulty KCNH2 (Kv11.1) channel affects heart rhythms and brain electrical activity that lead to seizures and SUDEP. Scientists will use those findings to test anti-seizure medicines for both seizure control and cardiac safety in a model that better matches human heart and brain physiology than common rodent models. The goal is to create a realistic platform to screen treatments and understand why some KCNH2 mutations increase seizure and sudden-death risk.
Why it matters
Potential benefit: This model could speed development of safer anti-seizure drugs and strategies to predict or prevent SUDEP in people with KCNH2/LQT2 variants.
How similar studies have gone: Rodent models exist but often fail to reproduce human cardiac and brain features, so creating a CRISPR rabbit model is a novel translational approach rather than an established, widely proven solution.
Where this research is happening
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Upstate Medical University
Syracuse, United States Active
Researchers
- Principal investigator: Auerbach, David Scott — Upstate Medical University
- Study coordinator: Auerbach, David Scott
Related research
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A study in zebrafish will model human epilepsy genes to help explain how certain brain mutations contribute to seizures.
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New MRI tools to better plan pediatric epilepsy surgery
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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.