Understanding a genetic disorder linked to the citrate transporter gene
Genetic and Functional Mechanisms in Citrate Transporter Disorder associated with SLC13A5
This study is looking at SLC13A5 epilepsy, a serious type of epilepsy that starts in babies and can affect their thinking and movement, to understand how changes in a specific gene might cause these challenges and find new ways to help those who have it.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Brown University NIH-funded |
| Lab location | 1 site (Providence, United States) |
| Project ID | NIH-11231547 on NIH RePORTER |
What this research studies
This research investigates SLC13A5 epilepsy, a severe form of epilepsy that begins in infancy and is associated with cognitive and motor challenges. The study aims to explore how mutations in the SLC13A5 gene, which encodes a citrate transporter, disrupt neural function and contribute to the disorder's severity. Using innovative mouse models, researchers will examine the cellular and molecular characteristics of the SLC13A5 gene and its common mutations to uncover the underlying mechanisms of this condition. This research could provide insights into potential therapeutic targets for affected individuals.
Who could benefit from this research
Good fit: Ideal candidates for this research include infants and children diagnosed with SLC13A5 epilepsy or those exhibiting symptoms related to this genetic disorder.
Not a fit: Patients without mutations in the SLC13A5 gene or those with other forms of epilepsy may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and treatment options for patients with SLC13A5 epilepsy.
How similar studies have performed: While this research focuses on a specific genetic mechanism, similar studies have shown promise in understanding other genetic forms of epilepsy, indicating potential for success.
Where this research is happening
Providence, United States
- Brown University — Providence, United States (Active)
Researchers
- Principal investigator: Liu, Judy Shih-Hwa — Brown University
- Study coordinator: Liu, Judy Shih-Hwa
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.