Social Deficits and Cerebellar Degeneration in Purkinje Cell Scn8a Knockout Mice.

ABSTRACT: Mutations in the SCN8A gene encoding the voltage-gated sodium channel α-subunit Nav1. 6 have been reported in individuals with epilepsy, intellectual disability and features of autism spectrum disorder. SCN8A is widely expressed in the central nervous system, including the cerebellum. Cerebellar dysfunction has been implicated in autism spectrum disorder. We investigated conditional Scn8a knockout mice under C57BL/6J strain background that specifically lack Scn8a expression in cerebellar Purkinje cells (Scn8a ^flox/flox , L7Cre ⁺ mice). Cerebellar morphology was analyzed by immunohistochemistry and MR imaging. Mice were subjected to a battery of behavioral tests including the accelerating rotarod, open field, elev

SUBMITTER: Yang X 

PROVIDER: S-EPMC9087741 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature