CNTNAP2 in brain development and neuropsychiatric disorders
Common and rare genetic variation in CNTNAP2 have been shown to confer risk to autism spectrum disorder (ASD). For example, patients with a single base deletion in exon 22 of CNTNAP2 have cortical dysplasia focal epilepsy syndrome, a complex disorder with a high prevalence of autism. A recent analysis of mouse null mutants for the Cntnap2 gene revealed important deficits in all three core autism behavioural domains (stereotypic behaviors, sociability and communication), which suggests that analysis of the brain circuits underlying these behavioural deficits may provide insights into the pathophysiology of the disorder. In this talk, I will summarise recent progress from our laboratory on the role of CNTNAP2 in brain development and disease.