Finding genetic causes of brain malformations that lead to epilepsy
Identification and molecular characterization of somatic mutations in MCD
This project helps us understand the genetic changes in brain tissue that cause malformations and lead to epilepsy.
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-11141002 on NIH RePORTER |
What this research studies
Our brains develop through a complex process, and sometimes small errors, or mutations, can happen after conception, leading to conditions like Malformations of Cortical Development (MCD). These malformations can cause severe epilepsy and intellectual disabilities. This project carefully examines brain tissue from individuals who have undergone surgery for these conditions to pinpoint the exact genetic changes responsible. By understanding these specific mutations, we hope to uncover how these brain differences develop and contribute to seizures. This knowledge is crucial for developing new ways to help patients with these challenging conditions.
Who could benefit from this research
Good fit: This research is relevant for individuals with Malformations of Cortical Development (MCD) who experience epilepsy, especially those who have had brain tissue removed during surgery.
Not a fit: Patients whose conditions are not related to Malformations of Cortical Development or who do not have epilepsy may not directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could lead to new ways to diagnose and treat brain malformations and related epilepsy.
How similar studies have performed: Previous work by this team has successfully identified specific genetic changes linked to certain brain malformations, showing promise for this approach.
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.