Causes of CASK-linked early-onset epileptic encephalopathy
Understanding the Etiology of CASK Associated Epileptic Encephalopathy
Researchers are looking at how changes in the CASK gene lead to severe early-onset epilepsy in children and how cellular energy systems may be involved.
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-11259565 on NIH RePORTER |
What this research studies
This project uses a neuron-specific CASK knockout mouse model that shows the same early seizures and EEG problems seen in people with CASK mutations, and the team studies brain cells, mitochondria, and related biochemical pathways. The researchers focus on how CASK interacts with mitochondrial function and the NAD+/Sirtuin1 pathway to produce seizures and developmental problems. By combining genetic models, brain recordings, and molecular experiments, they aim to pinpoint mechanisms that could be targeted by future treatments. Findings from the lab models will guide ideas for potential therapies or biomarkers for patients with CASK-related epileptic encephalopathy.
Who could benefit from this research
Good fit: People (or families of children) with diagnosed CASK gene mutations or with Ohtahara or West syndromes linked to CASK would be the most relevant candidates to follow this work or consider future participation.
Not a fit: People with epilepsy not caused by CASK gene problems or with unrelated adult-onset seizure disorders are unlikely to see direct benefits from this specific research.
Why it matters
Potential benefit: If successful, this work could identify biological targets that lead to new therapies or tests to reduce seizures and improve development and survival for people with CASK-related epilepsy.
How similar studies have performed: Prior laboratory and animal work has shown that loss of CASK causes severe seizures and that CASK links to mitochondria and NAD+/Sirtuin1, but translating these findings toward human treatments is still new.
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.