Heterozygous loss of epilepsy gene KCNQ2 alters social, repetitive and exploratory behaviors.

ABSTRACT: KCNQ/K_v 7 channels conduct voltage-dependent outward potassium currents that potently decrease neuronal excitability. Heterozygous inherited mutations in their principle subunits K_v 7.2/KCNQ2 and K_v 7.3/KCNQ3 cause benign familial neonatal epilepsy whereas patients with de novo heterozygous K_v 7.2 mutations are associated with early-onset epileptic encephalopathy and neurodevelopmental disorders characterized by intellectual disability, developmental delay and autism. However, the role of K_v 7.2-containing K_v 7 channels in behaviors especially autism-associated behaviors has not been described. Because pathogenic K_v 7.2 mutations in patients are typically heterozygous loss-of-function mutations, we investigated th

SUBMITTER: Kim EC 

PROVIDER: S-EPMC7050516 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature