Gene associated with seizures, autism, and hepatomegaly in an Amish girl

The Autism Diagnostic Observation Schedule—Generic: A Standard Measure of Social and Communication Deficits Associated with the Spectrum of Autism

Lord, C., Risi, S., Lambrecht, L., Cook, E. H., Leventhal, B. L., DiLavore, P. C., Pickles, A., & Rutter, M. (2000) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1005592401947 · Cited by 7,520 · see citing works

A functional genetic link between distinct developmental language disorders

Vernes, S. C., Newbury, D. F., Abrahams, B. S., Winchester, L., Nicod, J., Groszer, M., Alarcón, M., Oliver, P. L., Davies, K. E., Geschwind, D. H., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0802828 · Cited by 676 · see citing works

Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2

Strauss, K. A., Puffenberger, E. G., Huentelman, M. J., Gottlieb, S., Dobrin, S. E., Parod, J. M., Stephan, D. A., & Morton, D. H. (2006) · New England Journal of Medicine · doi:10.1056/nejmoa052773 · Cited by 630 · see citing works

Gilliam Autism Rating Scale (GARS)

Swift, C. (1999) · Diagnostique · doi:10.1177/153450849902401-411 · Cited by 62 · see citing works

Possible antenatal and perinatal related factors in development of cystic periventricular leukomalacia

Murata, Y., Itakura, A., Matsuzawa, K., Okumura, A., Wakai, K., & Mizutani, S. (2004) · Brain and Development · doi:10.1016/j.braindev.2004.02.011 · Cited by 54 · see citing works

Neuromotor spectrum of periventricular leukomalacia in children born at term

Miller, S. P., Shevell, M. I., Patenaude, Y. G., & O’Gorman, A. M. (2000) · Pediatric Neurology · doi:10.1016/s0887-8994(00)00172-7 · Cited by 51 · see citing works

Periventricular leukomalacia and epilepsy

Gurses, C., Gross, D. W., Andermann, F., Bastos, A. C., Dubeau, F., Calay, M., Eraksoy, M., Bezci, S., Andermann, E., & Melanson, D. (1999) · Neurology · doi:10.1212/wnl.52.2.341 · Cited by 42 · see citing works

Gilliam Autism Rating Scale (GARS)

Robinson, J. (2021) · Springer eBooks · doi:10.1007/978-3-319-91280-6_879 · Cited by 38 · see citing works

Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic–ischemic brain diseases

Poll‐The, B. T., Wanders, R. J. A., Ruiter, J. P. N., Ofman, R., Majoie, C. B. L. M., Barth, P. G., & Durán, M. (2004) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2003.11.013 · Cited by 32 · see citing works

White matter alterations associated with chromosomal disorders

García‐Cazorla, À., Sans, A., Baquero, M., García‐Bargo, M. D., Arellano, M., Póo, P., Geán, E., & Campistol, J. (2004) · Developmental Medicine & Child Neurology · doi:10.1017/s0012162204000271 · Cited by 26 · see citing works

White matter alterations associated with chromosomal disorders

García‐Cazorla, À., Sans, A., Baquero, M., et al. (2004) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.2004.tb00465.x · Cited by 20 · see citing works

Prognostic correlative values of the late-infancy MRI pattern in term infants with perinatal asphyxia

Tekgül, H., Serdaroğlu, G., Yalman, O., & Tütüncüoğlu, S. (2004) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2003.11.012 · Cited by 14 · see citing works

Excitatory/Inhibitory Balance and Circuit Homeostasis in Autism Spectrum Disorders

Nelson, S. B., & Valakh, V. (2015) · Neuron · doi:10.1016/j.neuron.2015.07.033 · Cited by 1,001 · see citing works

Individual common variants exert weak effects on the risk for autism spectrum disorders

Anney, R., Klei, L., Pinto, D., Almeida, J., Bacchelli, E., Baird, G., Bolshakova, N., Bölte, S., Bolton, P. F., Bourgeron, T., et al. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds301 · Cited by 375 · see citing works

CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila

Zweier, C., de Jong, E. K., Zweier, M., Orrico, A., Ousager, L. B., Collins, A. L., Bijlsma, E. K., Oortveld, M. A. W., Ekici, A. B., Reis, A., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.10.004 · Cited by 345 · see citing works

Fundamental Elements in Autism: From Neurogenesis and Neurite Growth to Synaptic Plasticity

Gilbert, J. P., & Man, H. (2017) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2017.00359 · Cited by 274 · see citing works

Shining a light on CNTNAP2: Complex functions to complex disorders

Rodenas-Cuadrado, P., Ho, J., & Vernes, S. C. (2014) · European Journal of Human Genetics · doi:10.1038/ejhg.2013.100 · Cited by 272 · see citing works

Investigation of Dyslexia and SLI Risk Variants in Reading- and Language-Impaired Subjects

Newbury, D. F., Paracchini, S., Scerri, T. S., Winchester, L. M., Addis, L., Richardson, A. J., Walter, J., Stein, J. F., Talcott, J. B., & Monaco, A. P. (2010) · Behavior Genetics · doi:10.1007/s10519-010-9424-3 · Cited by 224 · see citing works

Genetic Advances in the Study of Speech and Language Disorders

Newbury, D. F., & Monaco, A. P. (2010) · Neuron · doi:10.1016/j.neuron.2010.10.001 · Cited by 218 · see citing works

The Genetics of Autism: Key Issues, Recent Findings, and Clinical Implications

El-Fishawy, P., & State, M. W. (2010) · Psychiatric Clinics of North America · doi:10.1016/j.psc.2009.12.002 · Cited by 166 · see citing works

Synaptic abnormalities and cytoplasmic glutamate receptor aggregates in contactin associated protein-like 2 /Caspr2 knockout neurons

Varea, O., Martin‐de‐Saavedra, M. D., Kopeikina, K. J., Schürmann, B., Fleming, H. J., Fawcett‐Patel, J. M., Bach, A. P., Jang, S., Peles, E., Kim, E., et al. (2015) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1423205112 · Cited by 139 · see citing works

Neurogenetics of developmental dyslexia: from genes to behavior through brain neuroimaging and cognitive and sensorial mechanisms

Mascheretti, S., Luca, A. D., Trezzi, V., Peruzzo, D., Nordio, A., Marino, C., & Arrigoni, F. (2017) · Translational Psychiatry · doi:10.1038/tp.2016.240 · Cited by 127 · see citing works

Regulation of neuronal migration, an emerging topic in autism spectrum disorders

Reiner, O., Karzbrun, E., Kshirsagar, A., & Kaibuchi, K. (2015) · Journal of Neurochemistry · doi:10.1111/jnc.13403 · Cited by 123 · see citing works

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

Gregor, A., Albrecht, B., Bader, I., Bijlsma, E. K., Ekici, A. B., Engels, H., Hackmann, K., Horn, D., Hoyer, J., Klapecki, J., et al. (2011) · BMC Medical Genetics · doi:10.1186/1471-2350-12-106 · Cited by 121 · see citing works

Recent advances in the genetics of language impairment

Newbury, D. F., Fisher, S. E., & Monaco, A. P. (2010) · Genome Medicine · doi:10.1186/gm127 · Cited by 98 · see citing works

No Evidence for Association of Autism with Rare Heterozygous Point Mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins

Murdoch, J. D., Gupta, A. R., Sanders, S., Walker, M. F., Keaney, J. F., Fernandez, T. V., Murtha, M. T., Anyanwu, S. I., Ober, G., Raubeson, M. J., et al. (2015) · PLoS Genetics · doi:10.1371/journal.pgen.1004852 · Cited by 59 · see citing works

Eight further individuals with intellectual disability and epilepsy carrying bi-allelic <i>CNTNAP2</i> aberrations allow delineation of the mutational and phenotypic spectrum

Smogavec, M., Cleall, A., Hoyer, J., Lederer, D., Nassogne, M.-C., Palmer, E. E., Deprez, M., Benoit, V., Maystadt, I., Noakes, C., et al. (2016) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2016-103880 · Cited by 56 · see citing works

Inherited genetic variants in autism-related CNTNAP2 show perturbed trafficking and ATF6 activation

Falivelli, G., Jaco, A. D., Favaloro, F. L., Kim, H.-G., Wilson, J., Dubi, N., Ellisman, M. H., Abrahams, B. S., Taylor, P., & Comoletti, D. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds320 · Cited by 52 · see citing works

Language‐related <i>Cntnap2</i> gene is differentially expressed in sexually dimorphic song nuclei essential for vocal learning in songbirds

Panaitof, S. C., Abrahams, B. S., Dong, H., Geschwind, D. H., & White, S. A. (2010) · Journal of Comparative Neurology · doi:10.1002/cne.22318 · Cited by 49 · see citing works

Pathogenic and physiological autoantibodies in the central nervous system

Gold, M., Pul, R., Bach, J., Stangel, M., & Dodel, R. C. (2012) · Immunological Reviews · doi:10.1111/j.1600-065x.2012.01128.x · Cited by 46 · see citing works

Intragenic CNTNAP2 Deletions: A Bridge Too Far

Poot, M. (2017) · Molecular Syndromology · doi:10.1159/000456021 · Cited by 45 · see citing works

Patient-derived hiPSC neurons with heterozygous CNTNAP2 deletions display altered neuronal gene expression and network activity

Flaherty, E. K., Deranieh, R. M., Artimovich, E., Lee, I. S., Siegel, A. J., Levy, D. L., Nestor, M. W., & Brennand, K. (2017) · Schizophrenia · doi:10.1038/s41537-017-0033-5 · Cited by 45 · see citing works

CNTNAP2 polymorphisms and structural brain connectivity: A diffusion-tensor imaging study

von Hohenberg, C. C., Wigand, M. C. C., Kubicki, M. R., Leicht, G., Giegling, I., Karch, S., Hartmann, A. M., Konte, B., Friedl, M., Ballinger, T., et al. (2013) · Journal of Psychiatric Research · doi:10.1016/j.jpsychires.2013.07.002 · Cited by 39 · see citing works

Structural Characterization of the Extracellular Domain of CASPR2 and Insights into Its Association with the Novel Ligand Contactin1

Rubio‐Marrero, E. N., Vincelli, G., Jeffries, C. M., Shaikh, T. R., Pakos, I. S., Ranaivoson, F. M., von Daake, S., Demeler, B., Jaco, A. D., Perkins, G. A., et al. (2016) · Journal of Biological Chemistry · doi:10.1074/jbc.m115.705681 · Cited by 39 · see citing works

The CASPR2 cell adhesion molecule functions as a tumor suppressor gene in glioma

Bralten, L. B. C., Gravendeel, A. M., Kloosterhof, N. K., Sacchetti, A., Vrijenhoek, T., Veltman, J. A., van den Bent, M. J., Kros, J. M., Hoogenraad, C. C., Smitt, P. A. E. S., et al. (2010) · Oncogene · doi:10.1038/onc.2010.342 · Cited by 35 · see citing works

Dissection of genetic associations with language-related traits in population-based cohorts

Paracchini, S. (2011) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-011-9091-6 · Cited by 29 · see citing works

Mapping the distribution of language related genes FoxP1, FoxP2, and CntnaP2 in the brains of vocal learning bat species

Rodenas-Cuadrado, P., Mengede, J., Baas, L., Devanna, P., Schmid, T. A., Yartsev, M. M., Firzlaff, U., & Vernes, S. C. (2018) · The Journal of Comparative Neurology · doi:10.1002/cne.24385 · Cited by 29 · see citing works

The role of contactin-associated protein-like 2 in neurodevelopmental disease and human cerebral cortex evolution

George-Hyslop, F. S., Kivisild, T., & Livesey, F. J. (2022) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2022.1017144 · Cited by 29 · see citing works

Investigating behavioral phenotypes related to autism spectrum disorder in a gene-environment interaction model of Cntnap2 deficiency and Poly I:C maternal immune activation

Haddad, F. L., Oliveira, C. D., & Schmid, S. (2023) · Frontiers in Neuroscience · doi:10.3389/fnins.2023.1160243 · Cited by 21 · see citing works

Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder

D’Onofrio, G., Accogli, A., Severino, M., Caliskan, H., Kokotović, T., Blažeković, A., Gotovac, K., Markovic, S., Žigman, T., Goran, K., et al. (2023) · Human Genetics · doi:10.1007/s00439-023-02552-2 · Cited by 22 · see citing works

Autoantibodies and Psychosis

Kelleher, E., Barry, H., Cotter, D., Corvin, A. P., & Murphy, K. C. (2019) · Current topics in behavioral neurosciences · doi:10.1007/7854_2019_90 · Cited by 20 · see citing works

Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis

Conant, A., Curiel, J., Pizzino, A. M., Sabetrasekh, P., Murphy, J. L., Bloom, M. D., Evans, S. H., Helman, G., Taft, R. J., Simons, C., et al. (2018) · Journal of Child Neurology · doi:10.1177/0883073818776157 · Cited by 19 · see citing works

Amino-Terminal Microdeletion within theCNTNAP2Gene Associated with Variable Expressivity of Speech Delay

Al-Murrani, A., Ashton, F., Aftimos, S. F., George, A. M., & Love, D. R. (2012) · Case Reports in Genetics · doi:10.1155/2012/172408 · Cited by 19 · see citing works

Severe Intellectual Disability Associated with Recessive Defects in CNTNAP2 and NRXN1

Zweier, C. (2011) · Molecular Syndromology · doi:10.1159/000331270 · Cited by 20 · see citing works

A common variant of CNTNAP2 is associated with sub-threshold autistic traits and intellectual disability

Shiota, Y., Hirosawa, T., Yoshimura, Y., Tanaka, S., Hasegawa, C., Iwasaki, S., An, K., Soma, D., Sano, M., Yokoyama, S., et al. (2021) · PLoS ONE · doi:10.1371/journal.pone.0260548 · Cited by 16 · see citing works

Sleep Disorders in Children With Autism Spectrum Disorder: Insights From Animal Models, Especially Non-human Primate Model

Feng, S., Huang, H., Wang, N., Wei, Y., Liu, Y., & Qin, D. (2021) · Frontiers in Behavioral Neuroscience · doi:10.3389/fnbeh.2021.673372 · Cited by 14 · see citing works

Genetics of Autism

Abrahams, B. S., & Geschwind, D. H. (2009) · Springer eBooks · doi:10.1007/978-3-540-37654-5_29 · Cited by 14 · see citing works

Autisms

Persico, A. M. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-397267-5.00045-5 · Cited by 9 · see citing works

Connecting Signaling Pathways Underlying Communication to ASD Vulnerability

Lepp, S., Anderson, A. G., & Konopka, G. (2013) · International review of neurobiology · doi:10.1016/b978-0-12-418700-9.00004-6 · Cited by 8 · see citing works

Neuronal Migration Disorders

LoTurco, J. J., & Booker, A. B. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-397266-8.00038-7 · Cited by 5 · see citing works

Victor A. McKusick and Medical Genetics Among the Amish

Francomano, C. A. (2012) · Springer eBooks · doi:10.1007/978-1-4614-1677-7_13 · Cited by 6 · see citing works

Clinical Neurogenetics

Mehta, S., & Golshani, P. (2013) · Neurologic Clinics · doi:10.1016/j.ncl.2013.04.009 · Cited by 5 · see citing works

Exploring the clinical spectrum of CNTNAP2-related neurodevelopmental disorders: A case series and a literature appraisal

Barcia, G., Scorrano, G., Rio, M., Gitiaux, C., Hully, M., Poirier, K., Besmond, C., Münnich, A., Boddaert, N., Chémaly, N., et al. (2024) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2024.104979 · Cited by 4 · see citing works

Genetic pathways to autism spectrum disorders

Mehta, S., & Nurmi, E. L. (2013) · Neuropsychiatry · doi:10.2217/npy.13.16 · Cited by 4 · see citing works

Contactin-associated protein-like 2 expression in SH-SY5Y cells is upregulated by a FOXP2 mutant with a shortened poly-glutamine tract

Zhao, Y.-J., Liu, X., Sun, H., Wang, Y., YANG, W., & Ma, H. (2012) · Molecular Medicine Reports · doi:10.3892/mmr.2015.4483 · Cited by 4 · see citing works

Autism Spectrum Disorders

Mehta, S., & Geschwind, D. H. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-383834-6.00115-4 · Cited by 3 · see citing works

The Genetics of Autism

Sokol, D. K., & Lahiri, D. K. (2011) · Springer eBooks · doi:10.1007/978-1-4419-8065-6_6 · Cited by 3 · see citing works

Phenotypes and epidemiology of rare neurodevelopmental disorders

van Balkom, I. D. C. (2012) · Cited by 2 · see citing works

CNTNAP2: isoform- and context-specific functions in neurological disorders and cancer

Ye, Y., Zhu, L., & Wang, D. (2026) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2026.1803486 · Cited by 1 · see citing works

CASPR2‐Deficiency Neurodevelopmental Disorder Associated With Biallelic CNTNAP2 Gene Variants: Phenotypic and Genetic Analysis From Prenatal to Paediatric Period

Wang, S., He, Y., Zhao, Z., & Yang, B. (2025) · International Journal of Developmental Neuroscience · doi:10.1002/jdn.70079

Identification and characterization of disease-related copy number variations (CNVs) by high-dense SNP oligonucleotide microarrays

Rivera‐Bruguès, N. (2012) · Dipòsit Digital de la Universitat de Barcelona (Universitat de Barcelona)

Clinical, genetic and functional characterization of intellectual disability disorders

Zweier, C. (2014) · Radboud Repository (Radboud University)

Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2

Strauss, K. A., Puffenberger, E. G., Huentelman, M. J., Gottlieb, S., Dobrin, S. E., Parod, J. M., Stephan, D. A., & Morton, D. H. (2006) · New England Journal of Medicine · doi:10.1056/nejmoa052773 · Cited by 630 · see citing works

Cortical Dysplasia-Focal Epilepsy Syndrome

National Cancer Institute (2020) · Definitions · doi:10.32388/l3ih2d

CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy

Friedman, J. I., Vrijenhoek, T., Markx, S., Janssen, I. M., van der Vliet, W. A., Faas, B. H. W., Knoers, N. V. A. M., Cahn, W., Kahn, R. S., Edelmann, L. J., et al. (2007) · Molecular Psychiatry · doi:10.1038/sj.mp.4002049 · Cited by 297 · see citing works

Eight further individuals with intellectual disability and epilepsy carrying bi-allelic <i>CNTNAP2</i> aberrations allow delineation of the mutational and phenotypic spectrum

Smogavec, M., Cleall, A., Hoyer, J., Lederer, D., Nassogne, M.-C., Palmer, E. E., Deprez, M., Benoit, V., Maystadt, I., Noakes, C., et al. (2016) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2016-103880 · Cited by 56 · see citing works

Exploring the clinical spectrum of CNTNAP2-related neurodevelopmental disorders: A case series and a literature appraisal

Barcia, G., Scorrano, G., Rio, M., Gitiaux, C., Hully, M., Poirier, K., Besmond, C., Münnich, A., Boddaert, N., Chémaly, N., et al. (2024) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2024.104979 · Cited by 4 · see citing works