Understanding the causes of PCDH19-clustering epilepsy
Official title: Mechanisms of PCDH19-clustering epilepsy
Funded at University of Michigan at Ann Arbor · NIH-10997356 · Data updated 2026-11-12
This study is looking into how a specific gene affects brain function in girls with PCDH19-clustering epilepsy, which causes serious seizures and learning difficulties, to find new ways to help manage the condition.
Quick facts
| Grant type | Career grant |
|---|---|
| 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 | January 15, 2023 |
| Project end | December 31, 2027 |
| Funding year | 2025 |
| Award (this year) | $230,580 |
| NIH project number | 5K08NS124937-03 |
| Project ID | NIH-10997356 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are females diagnosed with PCDH19-clustering epilepsy or those with related developmental and epileptic encephalopathies.
✕Less likely to help
Patients with epilepsy not linked to the PCDH19 gene or those with other unrelated neurological conditions may not benefit from this research.
What this research studies
This research investigates the mechanisms behind PCDH19-clustering epilepsy, a condition that leads to severe seizures and cognitive challenges, primarily in females. The principal investigator, Dr. Ziobro, will utilize advanced techniques such as imaging and electrophysiology to explore how the PCDH19 gene affects brain cell interactions during development. By studying both animal models and cell cultures, the research aims to uncover potential therapeutic approaches for this debilitating condition. Patients may benefit from insights that could lead to new treatments or management strategies for epilepsy.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic options for patients suffering from PCDH19-clustering epilepsy.
How similar studies have gone: Previous research has shown promise in understanding genetic causes of epilepsy, suggesting that this approach could yield valuable insights.
Where this research is happening
-
University of Michigan at Ann Arbor
Ann Arbor, United States Active
Researchers
- Principal investigator: Ziobro, Julie M — University of Michigan at Ann Arbor
- Study coordinator: Ziobro, Julie M
Related research
Other NIH-funded projects on the same topics.
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-
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.
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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.
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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.
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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.