Understanding nerve cell dysfunction in a mouse model of Dravet syndrome
Interneuron axonopathy underlies circuit dysfunction in a mouse model of Dravet syndrome
This study is looking at how changes in a specific gene can cause problems in brain cells for kids with Dravet syndrome, with the hope of finding new ways to help improve their treatment and quality of life.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Hosp of Philadelphia NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-11072689 on NIH RePORTER |
What this research studies
This research investigates how genetic changes in the SCN1A gene lead to nerve cell dysfunction in a mouse model of Dravet syndrome, a severe condition affecting young children. The focus is on understanding the role of specific types of inhibitory nerve cells, particularly how they generate electrical signals and communicate within the brain. By studying these mechanisms, the research aims to uncover potential pathways for developing new treatments that could improve the lives of affected children.
Who could benefit from this research
Good fit: Ideal candidates for this research are children diagnosed with Dravet syndrome, particularly those under the age of 11.
Not a fit: Patients with Dravet syndrome who are older than 11 years or those without a confirmed diagnosis may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to novel treatments that significantly improve the quality of life for children with Dravet syndrome.
How similar studies have performed: Previous research has shown promising results in understanding similar neurodevelopmental disorders, suggesting that this approach could yield valuable insights.
Where this research is happening
Philadelphia, United States
- Children's Hosp of Philadelphia — Philadelphia, United States (Active)
Researchers
- Principal investigator: Goldberg, Ethan M — Children's Hosp of Philadelphia
- Study coordinator: Goldberg, Ethan 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.