Understanding how brain circuits affect seizures in Angelman syndrome
Official title: Neural Circuit Mechanisms of Seizure Susceptibility in a Mouse Model of Angelman Syndrome
Funded at Univ of North Carolina Chapel Hill · NIH-11025893 · Data updated 2026-11-12
This study is looking at how seizures happen in mice with Angelman syndrome, a condition that affects brain development, to find new ways to help people with this syndrome who often struggle with seizures.
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 | February 1, 2024 |
| Project end | January 31, 2027 |
| Funding year | 2025 |
| Award (this year) | $47,920 |
| NIH project number | 5F30HD111296-02 |
| Project ID | NIH-11025893 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Angelman syndrome, particularly those experiencing seizures.
✕Less likely to help
Patients without Angelman syndrome or those who do not experience seizures may not benefit from this research.
What this research studies
This research investigates the mechanisms behind seizure susceptibility in a mouse model of Angelman syndrome, a severe neurodevelopmental disorder. The study focuses on understanding the brain circuitry that leads to seizures, which are common in individuals with this condition. By examining changes in neural pathways, particularly in the hippocampus, the researchers aim to identify potential targets for new anti-epileptic therapies. This work is crucial as over 90% of individuals with Angelman syndrome experience seizures, and current treatments are often ineffective.
Why it matters
Potential benefit: If successful, this research could lead to the development of more effective treatments for seizures in patients with Angelman syndrome.
How similar studies have gone: Previous research has shown promise in understanding seizure mechanisms in other neurodevelopmental disorders, suggesting potential for success in this novel approach.
Where this research is happening
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Univ of North Carolina Chapel Hill
Chapel Hill, United States Active
Researchers
- Principal investigator: Ringelberg, Nicholas W — Univ of North Carolina Chapel Hill
- Study coordinator: Ringelberg, Nicholas W
Related research
Other NIH-funded projects on the same topics.
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Genome editor therapy for Angelman syndrome in young children
A University of North Carolina team is exploring a gene-editing approach to turn on the silent UBE3A gene in people with Angelman syndrome to reduce symptoms.
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MicroRNA pathways in Angelman Syndrome: novel targets for therapy
A small study explores how specific microRNAs may influence Angelman syndrome and whether targeting them could lead to new treatments.
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Delta brain rhythms in Angelman syndrome
Scientists will study unusual brain wave patterns in Angelman syndrome to understand how these signals relate to behavior and guide future treatments for affected children and adults.
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Targeting the stress response in Angelman syndrome
Aims to understand how loss of a brain gene called UBE3A disrupts pathways in Angelman syndrome and to design therapies that calm the stress response in affected neurons.
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Small molecule therapy to turn on the paternal UBE3A gene in Angelman syndrome
A small molecule drug is being developed to turn on the paternal UBE3A gene in Angelman syndrome, with the goal of improving brain function.
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UBE3A mosaicism and Angelman syndrome phenotypes
A study from UNC Chapel Hill will explore how the mix of neurons with active paternal UBE3A affects Angelman syndrome symptoms using a special mouse model and gene therapy tools.
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.