Research graph
References from CNTNAP2 in neurodevelopmental disorders: Genetics, excitation/inhibition mechanisms and preclinical evidence. Local targets link to admitted publications; unresolved targets remain external evidence.
Developmental deficits of MGE-derived interneurons in the Cntnap2 knockout mouse model of autism spectrum disorder
10.3389/fcell.2023.1112062 · 2023 · External reference
Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene
10.1016/j.ajhg.2007.09.005 · 2008 · External reference
Low plasma levels of contactin-associated protein-like 2 in children with autism spectrum disorder: links to neural development
10.2147/ndt.s490582 · 2024 · External reference
Development of the early fetal human thalamus: from a protomap to emergent thalamic nuclei
10.3389/fnana.2025.1530236 · 2025 · External reference
Sensitive period for rescuing parvalbumin interneurons connectivity and social behavior deficits caused by TSC1 loss
10.1038/s41467-021-23939-7 · 2021 · External reference
Candidate autism gene screen identifies critical role for cell-adhesion molecule CASPR2 in dendritic arborization and spine development
10.1073/pnas.1216398109 · 2012 · External reference
A common genetic variant in the Neurexin family member CNTNAP2 is related to language but not communication skills in youth with Autism Spectrum Disorder
10.1002/aur.3193 · 2025 · External reference
An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray
10.1038/s41598-020-59922-3 · 2020 · External reference
Unresolved reference
2023 · External reference
Developmental disruption of GABAA R-meditated inhibition in Cntnap2 KO mice
10.1523/eneuro.0162-17.2017 · 2017 · External reference
Measurement of excitation-inhibition ratio in autism spectrum disorder using critical brain dynamics
10.1038/s41598-020-65500-4 · 2020 · External reference
GABA/glutamate neuron differentiation imbalance and increased AKT/mTOR signaling in CNTNAP2−/− cerebral organoids
2025 · External reference
Glial ankyrins facilitate paranodal axoglial junction assembly
10.1038/nn.3858 · 2014 · External reference
The EU-AIMS Longitudinal European Autism Project (LEAP): clinical characterisation
10.1186/s13229-017-0145-9 · 2017 · External reference
Early-life adversities compromise behavioral development in male and female mice heterozygous for CNTNAP2
10.1016/j.ynstr.2025.100726 · 2025 · External reference
Variants of the CNTNAP2 5′ promoter as risk factors for autism spectrum disorders: a genetic and functional approach
10.1038/mp.2014.103 · 2015 · External reference
Oxytocin normalizes altered circuit connectivity for social rescue of the Cntnap2 knockout mouse
10.1016/j.neuron.2021.11.031 · 2022 · External reference
Differential impacts of Cntnap2 heterozygosity and Cntnap2 null homozygosity on axon and myelinated fiber development in mouse
10.3389/fnins.2023.1100121 · 2023 · External reference
Cortical overgrowth in a preclinical forebrain organoid model of CNTNAP2-associated autism spectrum disorder
10.1038/s41467-021-24358-4 · 2021 · External reference
Unresolved reference
External reference
Recessive gene disruptions in autism spectrum disorder
10.1038/s41588-019-0433-8 · 2019 · External reference
Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder
10.1007/s00439-023-02552-2 · 2023 · External reference
Case report: congenital brain dysplasia, developmental delay and intellectual disability in a patient with a 7q35-7q36.3 deletion
10.3389/fgene.2021.761003 · 2021 · External reference
Patient-derived hiPSC neurons with heterozygous CNTNAP2 deletions display altered neuronal gene expression and network activity
10.1038/s41537-017-0033-5 · 2017 · External reference
Bumetanide oral solution for the treatment of children and adolescents with autism spectrum disorder: results from two randomized phase III studies
10.1002/aur.3005 · 2023 · External reference
Behavioral physiology of the CNTNAP2 knockout mouse
2025 · External reference
Neuroanatomical alterations in the CNTNAP2 mouse model of autism spectrum disorder
10.3390/brainsci13060891 · 2023 · External reference
CNTNAP2 stabilizes interneuron dendritic arbors through CASK
10.1038/s41380-018-0027-3 · 2018 · External reference
Homeostatic plasticity fails at the intersection of autism-gene mutations and a novel class of common genetic modifiers
10.7554/elife.55775 · 2020 · External reference
Genetics of structural and functional brain changes in autism spectrum disorder
10.1038/s41398-020-00921-3 · 2020 · External reference
Organization of myelinated axons by Caspr and Caspr2 requires the cytoskeletal adapter protein 4.1B
10.1523/jneurosci.5225-09.2010 · 2010 · External reference
Paranodal axoglial junctions, an essential component in axonal homeostasis
10.3389/fcell.2022.951809 · 2022 · External reference
Cntnap2-dependent molecular networks in autism spectrum disorder revealed through an integrative multi-omics analysis
10.1038/s41380-022-01822-1 · 2023 · External reference
Modeling idiopathic autism in forebrain organoids reveals an imbalance of excitatory cortical neuron subtypes during early neurogenesis
10.1038/s41593-023-01399-0 · 2023 · External reference
Selective dysregulation of hippocampal inhibition in the mouse lacking autism candidate gene CNTNAP2
10.1523/jneurosci.1666-15.2015 · 2015 · External reference
An interstitial deletion at 7q33-36.1 in a patient with intellectual disability, significant language delay, and severe microcephaly
2016 · External reference
Measurement of excitation-inhibition imbalance in autism spectrum disorder using EEG proxy markers: a pilot study
10.1177/15500594251333159 · 2026 · External reference
Pharmacological modulation of AMPA receptor rescues social impairments in animal models of autism
10.1038/s41386-018-0098-5 · 2019 · External reference
Reduced prefrontal synaptic connectivity and disturbed oscillatory population dynamics in the CNTNAP2 model of autism
10.1016/j.celrep.2019.05.006 · 2019 · External reference
Characterization of molecular and cellular phenotypes associated with a heterozygous CNTNAP2 deletion using patient-derived hiPSC neural cells
10.1038/npjschz.2015.19 · 2015 · External reference
A randomised controlled trial of bumetanide in the treatment of autism in children
10.1038/tp.2012.124 · 2012 · External reference
The EU-AIMS Longitudinal European Autism Project (LEAP): design and methodologies to identify and validate stratification biomarkers for autism spectrum disorders
10.1186/s13229-017-0146-8 · 2017 · External reference
Utility of scalp hair follicles as a novel source of biomarker genes for psychiatric illnesses
10.1016/j.biopsych.2014.07.025 · 2015 · External reference
FOXG1-dependent dysregulation of GABA/glutamate neuron differentiation in autism spectrum disorders
10.1016/j.cell.2015.06.034 · 2015 · External reference
Transient CSF1R inhibition ameliorates behavioral deficits in Cntnap2 knockout and valproic acid-exposed mouse models of autism
10.1186/s12974-024-03259-5 · 2024 · External reference
Effects of eight neuropsychiatric copy number variants on human brain structure
10.1038/s41398-021-01490-9 · 2021 · External reference
Single nucleotide polymorphisms in the CNTNAP2 gene in Brazilian patients with autistic spectrum disorder
10.4238/gmr.15017422 · 2016 · External reference
Molecular and functional definition of the developing human striatum
10.1038/nn.3860 · 2014 · External reference
Bilateral temporal lobe dysplasia and seizure onset associated with biallelic CNTNAP2 variants
10.1002/epi4.12843 · 2024 · External reference
Decreased in vivo glutamate/GABA ratio correlates with the social behavior deficit in a mouse model of autism spectrum disorder
10.1186/s13041-022-00904-z · 2022 · External reference
Intranasal oxytocin treatment for social deficits and biomarkers of response in children with autism
10.1073/pnas.1705521114 · 2017 · External reference
What does CNTNAP2 reveal about autism spectrum disorder?
10.1016/j.molmed.2012.01.003 · 2012 · External reference
Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits
10.1016/j.cell.2011.08.040 · 2011 · External reference
Exogenous and evoked oxytocin restores social behavior in the Cntnap2 mouse model of autism
10.1126/scitranslmed.3010257 · 2015 · External reference
Assembly and function of the juxtaparanodal Kv1 complex in health and disease
2020 · External reference
Inhibitory axons are targeted in hippocampal cell culture by anti-Caspr2 autoantibodies associated with limbic encephalitis
10.3389/fncel.2015.00265 · 2015 · External reference
The Kv1-associated molecules TAG-1 and Caspr2 are selectively targeted to the axon initial segment in hippocampal neurons
10.1242/jcs.202267 · 2017 · External reference
Juxtaparanodal clustering of Shaker -like K+ channels in myelinated axons depends on Caspr2 and TAG-1
10.1083/jcb.200305018 · 2003 · External reference
Intragenic CNTNAP2 deletions: a bridge too far
10.1159/000456021 · 2017 · External reference
Genetics of autism spectrum disorder: an umbrella review of systematic reviews and meta-analyses
10.1038/s41398-022-02009-6 · 2022 · External reference
Treating autism with Bumetanide: identification of responders using Q-Finder machine learning algorithm
10.1038/s41398-026-03848-3 · 2026 · External reference
The axon initial segment and the maintenance of neuronal polarity
10.1038/nrn2852 · 2010 · External reference
Characterisation of CASPR2 deficiency disorder - a syndrome involving autism, epilepsy and language impairment
10.1186/s12881-016-0272-8 · 2016 · External reference
Defining the contribution of CNTNAP2 to autism susceptibility
10.1371/annotation/b4552fc7-285e-42e8-b126-d498eaf9f73a · 2013 · External reference
Homozygous deletions implicate non-coding epigenetic marks in autism spectrum disorder
10.1038/s41598-020-70656-0 · 2020 · External reference
Deletion of 7q34–q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features
10.1002/ajmg.a.33476 · 2010 · External reference
A common variant of CNTNAP2 is associated with sub-threshold autistic traits and intellectual disability
10.1371/journal.pone.0260548 · 2021 · External reference
Effect of CNTNAP2 polymorphism on receptive language in children with autism spectrum disorder without language developmental delay
10.1002/npr2.12267 · 2022 · External reference
Cytoskeletal transition at the paranodes: the Achilles’ heel of myelinated axons
10.1017/s1740925x07000415 · 2007 · External reference
Captopril restores microglial homeostasis and reverses ASD-like phenotype in a model of ASD induced by exposure in utero to anti-caspr2 IgG
10.1038/s41380-025-03298-1 · 2026 · External reference
Loss of CNTNAP2 alters human cortical excitatory neuron differentiation and neural network development
10.1016/j.biopsych.2023.03.014 · 2023 · External reference
The role of contactin-associated protein-like 2 in neurodevelopmental disease and human cerebral cortex evolution
10.3389/fnmol.2022.1017144 · 2022 · External reference
Molecular mechanisms of node of Ranvier formation
10.1016/j.ceb.2008.09.007 · 2008 · External reference
Cntnap2 knockout rats and mice exhibit epileptiform activity and abnormal sleep–wake physiology
10.1093/sleep/zsw026 · 2017 · External reference
Comprehensive cross-disorder analyses of CNTNAP2 suggest it is unlikely to be a primary risk gene for psychiatric disorders
10.1371/journal.pgen.1007535 · 2018 · External reference
Genotype- and sex-dependent effects of altered Cntnap2 expression on the function of visual cortical areas
10.1186/s11689-016-9182-5 · 2017 · External reference
The NO answer for autism spectrum disorder
2023 · External reference
CNTNAP2 gene polymorphisms in autism spectrum disorder and language impairment among Bangladeshi children: a case–control study combined with a meta-analysis
10.1007/s13577-021-00546-8 · 2021 · External reference
The role of the CNTNAP2 gene in the development of autism spectrum disorder
10.1016/j.rasd.2024.102409 · 2024 · External reference
CHD8 haploinsufficiency links autism to transient alterations in excitatory and inhibitory trajectories
10.1016/j.celrep.2022.110615 · 2022 · External reference
Mouse Cntnap2 and human CNTNAP2 ASD alleles cell autonomously regulate PV+ cortical interneurons
10.1093/cercor/bhx248 · 2018 · External reference
CNTNAP2 gene in high functioning autism: no association according to family and meta-analysis approaches
10.1007/s00702-015-1458-5 · 2016 · External reference
CNTNAP2 variants affect early language development in the general population
10.1111/j.1601-183x.2011.00684.x · 2011 · External reference
Suppression of Akt-mTOR pathway rescued the social behavior in Cntnap2-deficient mice
10.1038/s41598-019-39434-5 · 2019 · External reference
Dysfunctional autism risk genes cause circuit-specific connectivity deficits with distinct developmental trajectories
10.1093/cercor/bhy046 · 2018 · External reference
Bidirectional dysregulation of AMPA receptor-mediated synaptic transmission and plasticity in brain disorders
10.3389/fnsyn.2020.00026 · 2020 · External reference
Symptom improvement in children with autism spectrum disorder following bumetanide administration is associated with decreased GABA/glutamate ratios
2020 · External reference
CNTNAP2 intracellular domain (CICD) generated by γ-secretase cleavage improves autism-related behaviors
10.1038/s41392-023-01431-6 · 2023 · External reference
