Investigating a genetic cause of a rare epilepsy using stem cell models
Official title: Human induced pluripotent stem cell-derived models of SLC6A1-related epileptic encephalopathy
Funded at University of Michigan at Ann Arbor · NIH-11074275 · Data updated 2026-11-12
This study is looking at Myoclonic Atonic Epilepsy (MAE) to understand how changes in a specific gene affect brain function and cause seizures, with the hope that what we learn can help find better treatments for people with this condition.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Michigan at Ann Arbor NIH-funded |
| Lab location | 1 site (Ann Arbor, United States) |
| Project start | September 15, 2024 |
| Project end | August 31, 2025 |
| Funding year | 2024 |
| Award (this year) | $43,593 |
| NIH project number | 1F99NS135817-01A1 |
| Project ID | NIH-11074275 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Myoclonic Atonic Epilepsy or those with SLC6A1 gene mutations.
✕Less likely to help
Patients with epilepsy not linked to SLC6A1 mutations or those with other forms of epilepsy may not benefit from this research.
What this research studies
This research focuses on Myoclonic Atonic Epilepsy (MAE), a rare condition linked to mutations in the SLC6A1 gene, which affects GABA signaling in the brain. By creating human induced pluripotent stem cell (iPSC) models, researchers aim to understand how these genetic changes lead to severe seizures and developmental issues. The study will explore how alterations in brain development and neuronal excitability contribute to the symptoms of MAE. Patients may benefit from insights gained that could lead to new therapeutic approaches.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and treatment options for patients with Myoclonic Atonic Epilepsy.
How similar studies have gone: Other research has shown promise in using stem cell models to study genetic epilepsy, indicating a potential for success in this approach.
Where this research is happening
-
University of Michigan at Ann Arbor
Ann Arbor, United States Active
Researchers
- Principal investigator: Varela, Maria Carmen — University of Michigan at Ann Arbor
- Study coordinator: Varela, Maria Carmen
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.