Understanding the causes of SLC35A2-related epilepsy
Defining disease mechanisms in SLC35A2 epilepsy
This study is looking into how changes in a specific gene called SLC35A2 affect people with severe epilepsy, and it aims to find out if adding a certain supplement could help improve their condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Univ of North Carolina Chapel Hill NIH-funded |
| Lab location | 1 site (Chapel Hill, United States) |
| Project ID | NIH-10836464 on NIH RePORTER |
What this research studies
This research investigates the genetic mechanisms behind SLC35A2 epilepsy, focusing on how specific mutations in the SLC35A2 gene contribute to severe epilepsy in patients. The study examines both germline and somatic variants, which are mutations that can occur in brain cells during development. By analyzing these mutations, researchers aim to understand their impact on disease severity and explore potential therapeutic approaches, such as Gal supplementation, to improve patient outcomes.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with refractory neocortical epilepsy, particularly those with identified SLC35A2 mutations.
Not a fit: Patients with epilepsy not associated with SLC35A2 mutations or those with other unrelated neurological conditions may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatment options for patients with refractory epilepsy linked to SLC35A2 mutations.
How similar studies have performed: Previous research has shown promise in understanding genetic factors in epilepsy, suggesting that this approach could yield valuable insights and potential breakthroughs.
Where this research is happening
Chapel Hill, United States
- Univ of North Carolina Chapel Hill — Chapel Hill, United States (Active)
Researchers
- Principal investigator: Heinzen, Erin L — Univ of North Carolina Chapel Hill
- Study coordinator: Heinzen, Erin 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.