Investigating how different UBE3A proteins affect seizures in Angelman syndrome
Official title: The Role of UBE3A Isoforms in AS-associated Seizure Susceptibility
Funded at Univ of North Carolina Chapel Hill · NIH-10994498 · Data updated 2026-11-12
This study is looking at how different versions of a protein called UBE3A might affect the severity of seizures in people with Angelman syndrome, with the hope of finding new ways to help manage those seizures better.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Univ of North Carolina Chapel Hill NIH-funded |
| Lab location | 1 site (Chapel Hill, United States) |
| Project start | August 1, 2024 |
| Project end | July 31, 2027 |
| Funding year | 2024 |
| Award (this year) | $40,064 |
| NIH project number | 1F31NS139445-01 |
| Project ID | NIH-10994498 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Angelman syndrome who experience recurrent seizures.
✕Less likely to help
Patients without a diagnosis of Angelman syndrome or those who do not experience seizures may not benefit from this research.
What this research studies
This research focuses on understanding the role of UBE3A isoforms in the susceptibility to seizures associated with Angelman syndrome (AS). It aims to explore how these different protein forms contribute to the severity of seizures and other symptoms in individuals with AS. By examining the unique characteristics of each UBE3A isoform, the research seeks to identify potential new treatment strategies that could improve seizure management. The approach includes analyzing the cellular functions and interactions of these isoforms to better understand their impact on AS.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic strategies that more effectively manage seizures in patients with Angelman syndrome.
How similar studies have gone: Previous research has shown promise in targeting UBE3A for therapeutic interventions in Angelman syndrome, indicating a potential for success with this approach.
Where this research is happening
-
Univ of North Carolina Chapel Hill
Chapel Hill, United States Active
Researchers
- Principal investigator: Krzeski, Joseph — Univ of North Carolina Chapel Hill
- Study coordinator: Krzeski, Joseph
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.