Understanding different types of genetic epilepsy and developmental brain disorders
Subgroup delineation in genetic epilepsies and developmental brain disorders
This project uses detailed medical histories to find groups of people with similar symptom courses and treatment responses in genetic epilepsies and developmental brain disorders.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Hosp of Philadelphia NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-11310175 on NIH RePORTER |
What this research studies
Researchers will analyze detailed, time-based symptom and treatment records using a standardized symptom vocabulary called the Human Phenotype Ontology. They will reconstruct each person's clinical course over months to years to find subgroups with shared natural histories. The team will compare how these subgroups respond to specific treatments and look for gene-specific patterns, building on preliminary work in STXBP1 and SCN8A. The goal is to speed up phenotyping and help clinicians match treatments to genetic causes.
Who could benefit from this research
Good fit: Ideal participants are children or adults with a known genetic cause of epilepsy or developmental brain disorder, especially those with ongoing clinical records or genetic testing showing genes like STXBP1 or SCN8A.
Not a fit: People without a confirmed genetic diagnosis or with epilepsies unrelated to the genes under study may not see direct benefit from this project.
Why it matters
Potential benefit: If successful, this work could help doctors tailor treatments and give families clearer prognosis information for specific genetic epilepsies.
How similar studies have performed: The team’s earlier reconstructions for STXBP1 and SCN8A showed distinct natural histories and treatment response patterns, suggesting the approach is promising but needs wider validation.
Where this research is happening
Philadelphia, United States
- Children's Hosp of Philadelphia — Philadelphia, United States (Active)
Researchers
- Principal investigator: Helbig, Ingo — Children's Hosp of Philadelphia
- Study coordinator: Helbig, Ingo
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.