Understanding how mutations in a specific gene affect brain function and development.
Cellular Pathophysiology of Neuronal Na/K-ATPase Dysfunction
This study is looking at how changes in a specific gene can affect brain cells in kids with Alternating Hemiplegia of Childhood, using special cells from patients to see how these changes might cause symptoms like weakness and delays in development.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Northwestern University at Chicago NIH-funded |
| Lab location | 1 site (Chicago, United States) |
| Project ID | NIH-11060858 on NIH RePORTER |
What this research studies
This research investigates the effects of mutations in the ATP1A3 gene, which is crucial for neuronal function, particularly in conditions like Alternating Hemiplegia of Childhood. By using patient-specific induced pluripotent stem cells, the study aims to model how these mutations disrupt cellular processes in neurons. The researchers will measure the activity of the Na/K-ATPase pump to understand how its dysfunction leads to symptoms such as weakness and developmental delays. This approach could reveal important insights into the cellular mechanisms behind these neurodevelopmental disorders.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with Alternating Hemiplegia of Childhood or other neurodevelopmental syndromes linked to ATP1A3 mutations.
Not a fit: Patients without ATP1A3 mutations or those with unrelated neurodevelopmental disorders may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic strategies for treating neurodevelopmental disorders associated with ATP1A3 mutations.
How similar studies have performed: While the genetic basis of ATP1A3-related disorders is known, this specific cellular modeling approach is relatively novel and has not been extensively tested in prior research.
Where this research is happening
Chicago, United States
- Northwestern University at Chicago — Chicago, United States (Active)
Researchers
- Principal investigator: George, Alfred L. — Northwestern University at Chicago
- Study coordinator: George, Alfred L.
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.