Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits.

ABSTRACT: Although many genes predisposing to autism spectrum disorders (ASD) have been identified, the biological mechanism(s) remain unclear. Mouse models based on human disease-causing mutations provide the potential for understanding gene function and novel treatment development. Here, we characterize a mouse knockout of the Cntnap2 gene, which is strongly associated with ASD and allied neurodevelopmental disorders. Cntnap2(-/-) mice show deficits in the three core ASD behavioral domains, as well as hyperactivity and epileptic seizures, as have been reported in humans with CNTNAP2 mutations. Neuropathological and physiological analyses of these mice before the onset of seizures reveal neuronal migration abnormalities, reduced number of interneurons, and abnormal neuronal network activity. In add

SUBMITTER: Penagarikano O 

PROVIDER: S-EPMC3390029 | biostudies-literature | 2011 Sep

REPOSITORIES: biostudies-literature