CNTNAP2 is located on chromosome 7q35, consists of 24 exons, and spans 2.3 Mb, making
it a large physical target for disruptive variants. Most of the reported affected individuals carry …

The genetic basis of complex neurological disorders involving language are poorly
understood, partly due to the multiple additive genetic risk factors that are thought to be …

Although genetic variations in several genes encoding for synaptic adhesion proteins have
been found to be associated with autism spectrum disorders, one of the most consistently …

Background Loss-of-function mutations in the contactin-associated protein-like 2
(CNTNAP2) gene are causal for neurodevelopmental disorders, including autism …

Human mutations in CNTNAP2 are associated with an array of neuropsychiatric and
neurological syndromes, including speech and language disorders, epilepsy, and autism …

Although many genes predisposing to autism spectrum disorders (ASD) have been
identified, the biological mechanism (s) remain unclear. Mouse models based on human …

Intragenic deletions of the contactin-associated protein-like 2 gene (CNTNAP2) have been
found in patients with Gilles de la Tourette syndrome, intellectual disability (ID), obsessive …

Based on genomic rearrangements and copy number variations, the contactin-associated
protein-like 2 gene (CNTNAP2) has been implicated in neurodevelopmental disorders such …

The contactin-associated protein-like 2 (CNTNAP2) gene is a member of the neurexin
superfamily. CNTNAP2 was first implicated in the cortical dysplasia-focal epilepsy (CDFE) …

The CNTNAP2 gene has been proposed to be one of the major susceptibility genes for
neurodevelopmental disorders, in which numerous heterozygous missense variants have …