Investigating a new treatment approach for genetic epilepsy
Official title: Exploiting KCNQ2 upstream open reading frames for therapeutic opportunity
Funded at Northwestern University at Chicago · NIH-11030230 · Data updated 2026-11-12
This study is looking at a gene called KCNQ2 that can cause serious epilepsy in kids, and the researchers want to find out how a part of this gene's instructions affects a key protein in the brain, hoping to discover new ways to help treat children with this condition.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Northwestern University at Chicago NIH-funded |
| Lab location | 1 site (Chicago, United States) |
| Project start | April 1, 2024 |
| Project end | January 31, 2027 |
| Funding year | 2025 |
| Award (this year) | $44,748 |
| NIH project number | 5F31NS135753-02 |
| Project ID | NIH-11030230 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children under 11 years old who have been diagnosed with epilepsy related to KCNQ2 genetic mutations.
✕Less likely to help
Patients with epilepsy not linked to KCNQ2 mutations or those over the age of 11 may not benefit from this research.
What this research studies
This research focuses on a genetic mechanism that causes severe epilepsy in children due to mutations in the KCNQ2 gene. The team aims to understand how a specific part of the KCNQ2 mRNA affects the production of a crucial protein involved in brain function. They will use advanced techniques, including genome editing and antisense oligonucleotide therapy, to potentially enhance the expression of this protein, which could lead to new treatment options for affected patients.
Why it matters
Potential benefit: If successful, this research could lead to targeted therapies for children suffering from severe epilepsy linked to KCNQ2 mutations.
How similar studies have gone: Other research has shown promise in using antisense oligonucleotide therapies for genetic conditions, indicating potential success for this approach.
Where this research is happening
-
Northwestern University at Chicago
Chicago, United States Active
Researchers
- Principal investigator: Huey, Dalton Jun-Da — Northwestern University at Chicago
- Study coordinator: Huey, Dalton Jun-Da
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.