Topic: KCNQ3

Understanding the biological underpinnings of gene-environment interactions (GxE) in humans is challenging. Therefore, animal models, with their controlled genetic backgrounds and environments can provide invaluable insights. This study aims to identify the genetic background of a particular “freezing” behaviour observed in beagle dogs, as a mechanism coping with stress. An intriguing observation was made in 50 kennel-raised beagles: upon leaving the kennel, 14 exhibited "freezing" behaviour and remained immobile during the 30-minute test, while 9 showed normal activity and 27 dogs were initia

Kv7.2 and Kv7.3 are neuronal voltage-gated potassium channel subunits encoded by KCNQ2 and KCNQ3 genes, underlying the M-current, a slowly activating and non-inactivating current involved in neuronal excitability control. Kv7.2 mutations lead to neonatal-onset epilepsies including developmental and epileptic encephalopathies (DEE), characterized by seizures, electroencephalographic abnormalities, and developmental delay. When expressed in vitro, most Kv7.2 variants cause loss-of-function (LoF) effects. In this study, we aimed to functionally characterize a de novo KCNQ2 mutation in the pore of