Rare Epilepsy Partnership Award

Establishing KCNQ2 p.G281R Mouse as a Preclinical Model for Therapeutic Discovery

The Jackson Laboratory

2025 Anil Akturk, PhD

This Rare Epilepsy Partnership Award is co-funded by the KCNQ2 Cure Alliance

Individuals with KCNQ2 related developmental and epileptic encephalopathy (KCNQ2‑DEE) have variants in the KCNQ2 (potassium voltage-gated channel subfamily Q member 2) gene that change potassium channel function in the brain. These channels help control electrical activity, and when they do not work correctly, children can develop seizures and intellectual disability.

Dr. Akturk’s team has developed a new “humanized” mouse model that carries a human KCNQ2-DEE variant called p.G281R. The team proposes to characterize seizures, cognition, and brain pathology in this model.

Collaborating with Dr. Timothy Yu at Boston Children’s Hospital, the team will also design and test antisense oligonucleotides (ASOs), a type of genetic therapy, to restore potassium channel function in the model. If successful, this research will provide a powerful new model for understanding KCNQ2-DEE and help accelerate the development of targeted therapies.