Understanding a genetic disorder linked to brain development and epilepsy
Models and mechanisms of SCN3A neurodevelopmental disorder
This study is looking at how changes in the SCN3A gene affect brain development and cause treatment-resistant epilepsy and severe intellectual disability, with the hope of finding new ways to help those who are affected.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pennsylvania NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-10883756 on NIH RePORTER |
What this research studies
This research investigates the SCN3A neurodevelopmental disorder, which is characterized by treatment-resistant epilepsy and severe intellectual disability. The study aims to uncover how genetic variants in the SCN3A gene affect brain development and lead to these conditions. By using advanced techniques, including CRISPR, the researchers will explore the physiological role of the Nav1.3 sodium channel in developing neurons and how its dysfunction contributes to the disorder. The ultimate goal is to inform potential therapies or preventative measures for affected individuals.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with SCN3A-related neurodevelopmental disorder, particularly those experiencing treatment-resistant epilepsy and severe intellectual disability.
Not a fit: Patients without a diagnosis of SCN3A-related neurodevelopmental disorder 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 treatments or preventative strategies for individuals with SCN3A-related neurodevelopmental disorder.
How similar studies have performed: While the specific mechanisms of SCN3A-related neurodevelopmental disorder are not well understood, similar genetic studies have shown promise in uncovering pathways for other neurodevelopmental disorders.
Where this research is happening
Philadelphia, United States
- University of Pennsylvania — Philadelphia, United States (Active)
Researchers
- Principal investigator: Merchant, Julie Priya — University of Pennsylvania
- Study coordinator: Merchant, Julie Priya
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.