Exploring the causes of a severe form of epilepsy linked to the CASK gene
Understanding the Etiology of CASK Associated Epileptic Encephalopathy
This study is looking at how changes in the CASK gene cause serious brain issues in young children with CASK Associated Epileptic Encephalopathy, using a special mouse model to help find new ways to treat the condition and improve brain health.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Alabama at Birmingham NIH-funded |
| Lab location | 1 site (Birmingham, United States) |
| Project ID | NIH-11196736 on NIH RePORTER |
What this research studies
This research investigates the genetic underpinnings of CASK Associated Epileptic Encephalopathy, a severe brain disorder that manifests in early childhood. By utilizing a novel mouse model that mimics the condition, researchers aim to understand how mutations in the CASK gene lead to debilitating seizures and cognitive impairments. The study focuses on the role of CASK in neuronal function and its impact on brain health, with the goal of uncovering potential therapeutic targets. Patients may benefit from insights gained into the mechanisms of this condition, which could inform future treatment strategies.
Who could benefit from this research
Good fit: Ideal candidates for participation or benefit from this research include children diagnosed with CASK Associated Epileptic Encephalopathy or related genetic epileptic syndromes.
Not a fit: Patients with epilepsy not associated with genetic mutations in the CASK gene may not receive any benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and treatment options for children suffering from severe epileptic conditions linked to the CASK gene.
How similar studies have performed: Previous research has shown promise in understanding genetic causes of epilepsy, but this specific approach using the CASK gene is relatively novel.
Where this research is happening
Birmingham, United States
- University of Alabama at Birmingham — Birmingham, United States (Active)
Researchers
- Principal investigator: Srivastava, Sarika — University of Alabama at Birmingham
- Study coordinator: Srivastava, Sarika
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.