Investigating the effects of mutations in the ATP1A3 gene on neurological health.
CLINICAL, GENETIC, AND CELLULAR CONSEQUENCES OF MUTATIONS IN NA,K-ATPASE ATP1A3
This study is looking at how changes in a specific gene might impact brain function in people with autism and similar conditions, and it hopes to find new ways to help improve their symptoms and overall well-being using existing medications.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | State University of New York at Buffalo NIH-funded |
| Lab location | 1 site (Amherst, United States) |
| Project ID | NIH-10888132 on NIH RePORTER |
What this research studies
This research focuses on understanding how mutations in the ATP1A3 gene affect neurological functions, particularly in individuals with autism spectrum disorder (ASD) and related conditions. By examining patients with these mutations, the study aims to identify new phenotypes and risk factors while validating the genetic variants through laboratory tests. The research also explores potential treatments using FDA-approved drugs to improve symptoms and quality of life for affected individuals. Overall, it seeks to create a comprehensive understanding of the natural history of symptoms associated with ATP1A3 mutations.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with autism spectrum disorder or related neurological conditions who have mutations in the ATP1A3 gene.
Not a fit: Patients without mutations in the ATP1A3 gene or those with unrelated neurological conditions may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved treatments and better management strategies for patients with ATP1A3-related neurological conditions.
How similar studies have performed: Previous research has shown promise in understanding the implications of ATP1A3 mutations, indicating that this approach could yield significant insights and potential breakthroughs.
Where this research is happening
Amherst, United States
- State University of New York at Buffalo — Amherst, United States (Active)
Researchers
- Principal investigator: Brashear, Allison — State University of New York at Buffalo
- Study coordinator: Brashear, Allison
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.