Dr. Michele Postashman’s newly published article in Epilepsy & Behavior details a qualitative, lived experience study of individuals and families affected by KCNQ2-DEE. With recruitment help from KCNQ2 Cure Alliance (thank you to those who participated!), they interviewed 53 parents of people with the disorder. Findings show that non-seizure related symptoms like communication difficulties, cognitive delays, and problems with personal care and hygiene are reported as most burdensome. This work aims to inform future clinical trials so that therapeutics can move beyond a sole focus on seizure reduction and address additional quality-of-life symptoms.

https://www.epilepsybehavior.com/article/S1525-5050(25)00410-X/fulltext