Understanding SLC13A5 Epilepsy
Genetic and Functional Mechanisms in Citrate Transporter Disorder associated with SLC13A5
['FUNDING_R01'] · BROWN UNIVERSITY · NIH-11089511
This research aims to understand how changes in the SLC13A5 gene cause a severe form of epilepsy that starts very early in life.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | BROWN UNIVERSITY (nih funded) |
| Locations | 1 site (PROVIDENCE, UNITED STATES) |
| Trial ID | NIH-11089511 on ClinicalTrials.gov |
What this research studies
We are looking into why mutations in the SLC13A5 gene lead to a serious type of epilepsy called DEE25, which causes seizures and developmental delays from birth. We know that this gene affects how a substance called citrate is transported in the body, and this might impact brain function. Our goal is to uncover the specific ways these gene changes disrupt brain cells and circuits, especially focusing on common gene mutations found in patients. By understanding these detailed processes, we hope to find new ways to help children affected by this condition.
Who could benefit from this research
Good fit: This foundational research is for future patients with SLC13A5 epilepsy, particularly those with the common G219R and T227M mutations, as it seeks to understand the disease's root causes.
Not a fit: Patients whose epilepsy is not linked to mutations in the SLC13A5 gene may not directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could lead to a better understanding of SLC13A5 epilepsy, paving the way for new treatments or therapies for affected children.
How similar studies have performed: SLC13A5 epilepsy is a newly recognized condition, and the specific mechanisms of its common mutations have not been fully explored, making this a novel area of investigation.
Where this research is happening
PROVIDENCE, UNITED STATES
- BROWN UNIVERSITY — PROVIDENCE, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: HELFAND, STEPHEN L — BROWN UNIVERSITY
- Study coordinator: HELFAND, STEPHEN L
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.
Conditions: Animal Diseases