Understanding the causes of PCDH19-clustering epilepsy
Mechanisms of PCDH19-clustering epilepsy
['FUNDING_CAREER'] · UNIVERSITY OF MICHIGAN AT ANN ARBOR · NIH-10997356
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
| Phase | ['FUNDING_CAREER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF MICHIGAN AT ANN ARBOR (nih funded) |
| Locations | 1 site (ANN ARBOR, UNITED STATES) |
| Trial ID | NIH-10997356 on ClinicalTrials.gov |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research are females diagnosed with PCDH19-clustering epilepsy or those with related developmental and epileptic encephalopathies.
Not a fit: Patients with epilepsy not linked to the PCDH19 gene or those with other unrelated neurological conditions may not benefit from this research.
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 performed: Previous research has shown promise in understanding genetic causes of epilepsy, suggesting that this approach could yield valuable insights.
Where this research is happening
ANN ARBOR, UNITED STATES
- 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
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 below.