Canali G et al. CNTNAP2 heterozygous missense variants: risk factors for autism spectrum disorder and/or other pathologies? J Exp Neurosci. 2018;12:1179069518809666. https://doi.org/10.1177/1179069518809666. PMID: 30450007.
Canali G et al. Genetic variants in autism-related CNTNAP2 impair axonal growth of cortical neurons. Hum Mol Genet. 2018;27(11):1941–1954. https://doi.org/10.1093/hmg/ddy102. PMID: 29788201.
D'Onofrio G et al. Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder. Hum Genet. 2023;142(7):909-925. doi: 10.1007/s00439-023-02552-2. PMID: 37183190.
Nakabayashi K et al. The human contactin-associated protein-like 2 gene (CNTNAP2) spans over 2 Mb of DNA at chromosome 7q35. Genomics. 2001;73(1):108–112. https://doi.org/10.1006/ geno.2001.6517. PMID: 11352571.
Peñagarikano O et al. Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related defcits. Cell 2011;147(1):235–246. https://doi.org/10.1016/j.cell.2011.08.040. PMID: 21962519.
Poliak S et al. Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels. Neuron. 1999;24(4):1037–1047. https://doi.org/10.1016/s0896-6273(00)81049-1. PMID: 10624965.
Rodenas-Cuadrado P et al. Characterisation of CASPR2 defciency disorder–a syndrome involving autism, epilepsy and language impairment. BMC Med Genet. 2016;17:8. https://doi.org/10.1186/ s12881-016-0272-8. PMID: 26843181.
Smogavec M et al. Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum. J Med Genet. 2016;53(12):820–827. https://doi.org/10.1136/jmedgenet-2016-103880. PMID: 27439707.