Ezogabine impacts seizures and development in patients with KCNQ2 developmental and epileptic encephalopathy

• DOI: 10.1111/epi.17627
• Publication Date: 2023-04-25T10:20:47Z
• Authors: Devon Knight; Sonal Mahida; Mckenna Kelly; Annapurna Poduri; Heather E. Olson
• Keywords: Irritability

Genetic variants in KCNQ2 are associated with a range of epilepsies, from self- limited (familial) neonatal-infantile epilepsy to developmental and epileptic encephalopathy (DEE). We retrospectively reviewed clinical data eight patients KCNQ2-related DEE who were treated ezogabine. Treatment was initiated at median age 8 months (range, 7 weeks 2.5 years) continued for 2.6 years 4.5 years). Five individuals had daily seizures baseline experienced least 50% seizure reduction treatment, sustained four. One individual two four yearly improved rare events. Two seizure-free; treatment targeted cognition development. Developmental improvements reported all patients. Weaning ezogabine increased frequency (N = 4), agitation irritability 2), poor sleep 1), regression 2). These suggest that is effective reducing burden Minimal side effects observed. behavioral disturbances subset. An approach targeting potassium channel dysfunction warranted DEE.