Rare Epilepsy Partnership Award

Gene Therapy for Seizures in a Mouse Model of a Pathogenic GRIK2 Variant

Northwestern University

2025 Geoffrey Swanson, PhD

This Rare Epilepsy Partnership Award is co-funded by the CureGRIN Foundation

Variants in the glutamate receptor genes cause disease broadly referred to as GRI disorders. The goal of this research is to test a gene therapy approach for a rare variant in the GRIK2 gene. This gene makes a type of protein called a kainate receptor, which helps control electrical activity in neurons. Individuals with a gain‑of‑function GRIK2 variant experience epilepsy and other neurological problems which are among the most severe found in GRI disorders. There are currently no treatments that address the root cause of GRIK2 disorders, so new treatment strategies are needed.

Dr. Swanson’s team will test whether reducing the activity of the overactive kainate receptor, using a gene therapy approach, can improve seizures and other behaviors in a new mouse model that carries the same genetic change found in people. If the results are positive, the work will provide strong early evidence that RNA‑based therapies could help children with GRIK2‑related conditions.