Deficiency of autism-related Scn2a gene in mice disrupts sleep patterns and circadian rhythms.

ABSTRACT: Autism spectrum disorder (ASD) affects ~2% of the population in the US, and monogenic forms of ASD often result in the most severe manifestation of the disorder. Recently, SCN2A has emerged as a leading gene associated with ASD, of which abnormal sleep pattern is a common comorbidity. SCN2A encodes the voltage-gated sodium channel Na_V1.2. Predominantly expressed in the brain, Na_V1.2 mediates the action potential firing of neurons. Clinical studies found that a large portion of children with SCN2A deficiency have sleep disorders, which severely impact the quality of life of affected individuals and their caregivers. The underlying mechanism of sleep disturbances related to Na_V1.2 deficiency, however, is not known. Using a gene-trap Scn2a-deficient mouse mode

SUBMITTER: Ma Z 

PROVIDER: S-EPMC9018617 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature