Investigating how mutations in the CACNA1A gene affect brain function and coordination.
Official title: Assessing Synaptic and Intrinsic Effects of Patient-Derived ID-Associated CACNA1A Mutations Using Multiple Models
Funded at Albert Einstein College of Medicine · NIH-10819562 · Data updated 2026-11-12
This study is looking at how certain changes in a gene related to conditions like Episodic Ataxia type 2 and Familial Hemiplegic Migraine affect brain function, and it aims to help people with these symptoms understand their condition better and find better treatments.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Albert Einstein College of Medicine NIH-funded |
| Lab location | 1 site (Bronx, United States) |
| Project start | May 1, 2023 |
| Project end | December 31, 2025 |
| Funding year | 2024 |
| Award (this year) | $210,000 |
| NIH project number | 5R21NS132111-02 |
| Project ID | NIH-10819562 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals diagnosed with Episodic Ataxia type 2, Familial Hemiplegic Migraine, or those exhibiting cognitive dysfunction linked to CACNA1A mutations.
✕Less likely to help
Patients without CACNA1A mutations or those with unrelated neurological disorders may not benefit from this research.
What this research studies
This research focuses on understanding the effects of specific mutations in the CACNA1A gene, which is linked to neurological disorders like Episodic Ataxia type 2 and Familial Hemiplegic Migraine. By using various models, the study aims to explore how these mutations impact neuronal excitability and cognitive functions. Patients with overlapping symptoms of these disorders may benefit from insights gained about their condition. The research will involve analyzing the functional consequences of different mutations to better classify and treat affected individuals.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnosis and targeted treatments for patients with CACNA1A-related disorders.
How similar studies have gone: Previous research has shown promising results in understanding the role of CACNA1A mutations in neurological disorders, suggesting that this approach could yield valuable insights.
Where this research is happening
-
Albert Einstein College of Medicine
Bronx, United States Active
Researchers
- Principal investigator: Kurshan, Peri T — Albert Einstein College of Medicine
- Study coordinator: Kurshan, Peri T
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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.