Mapping genetic factors that influence a severe form of epilepsy in mice
Genetic Mapping of Modifier Loci in a Mouse Model KCNB1 Encephalopathy
['FUNDING_R21'] · NORTHWESTERN UNIVERSITY AT CHICAGO · NIH-10881940
This study is looking at how certain genes might influence the severity of epilepsy in babies, using mice to help find new ways to improve treatments for children with this condition.
Quick facts
| Phase | ['FUNDING_R21'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | NORTHWESTERN UNIVERSITY AT CHICAGO (nih funded) |
| Locations | 1 site (CHICAGO, UNITED STATES) |
| Trial ID | NIH-10881940 on ClinicalTrials.gov |
What this research studies
This research investigates the genetic factors that may modify the severity of developmental and epileptic encephalopathies (DEEs) using a mouse model. By identifying specific modifier genes, the study aims to understand how these genes affect the expression and severity of epilepsy, which is particularly challenging in infants. The approach involves genetic mapping and analysis of the mouse model to uncover shared pathways that could lead to better treatment options for affected children. The findings could provide insights into the underlying mechanisms of DEEs and inform future therapeutic strategies.
Who could benefit from this research
Good fit: Ideal candidates for this research are children under 11 years old diagnosed with developmental and epileptic encephalopathies.
Not a fit: Patients with epilepsy not classified as developmental or epileptic encephalopathies may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to the development of more effective treatments for children suffering from severe epilepsy.
How similar studies have performed: Previous research has shown promise in identifying genetic modifiers in similar conditions, suggesting that this approach could yield valuable insights.
Where this research is happening
CHICAGO, UNITED STATES
- NORTHWESTERN UNIVERSITY AT CHICAGO — CHICAGO, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: KEARNEY, JENNIFER A — NORTHWESTERN UNIVERSITY AT CHICAGO
- Study coordinator: KEARNEY, JENNIFER A
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: Candidate Disease Gene