KCNQ2 Cure is excited to announce a new KCNQ2‑DEE research grant, funded in partnership with CURE Epilepsy. Together, we are co-funding this Rare Epilepsy Partnership Award to support the development of a preclinical model for therapeutic discovery. 

Titled, “Establishing KCNQ2 p.G281R Mouse as a Preclinical Model for Therapeutic Discovery,” this grant supports work led by Anil Akturk, PhD, at The Jackson Laboratory. 

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 disabilities.

Dr. Akturk’s team has developed a novel “humanized” mouse model that carries a human KCNQ2-DEE variant, p.G281R. Dr. Akturk’s team will characterize the effects of this variant on seizures, cognition, and brain pathology in this model.

In collaboration with Timothy Yu, MD, PhD, at Boston Children’s Hospital, the team will also design and evaluate antisense oligonucleotides (ASOs), a type of genetic therapy, using this model. The goal is to determine whether an ASO candidate therapy may help to restore potassium channel function in the model. If successful, this research will establish an important new tool for understanding KCNQ2-DEE and help accelerate the development of targeted therapies for people living with KCNQ2-related disorders.