CNTNAP2 Antibody

1. After adjustment for the false discovery rate (FDR), two SNPs (rs3779031, rs987456) of CNTNAP2 were associated with developmental dyslexia risk in females but not in males. PMID: 30017804
2. Study screened 28 autosomal dominant epilepsy with auditory features (ADEAF) families for mutations in CNTNAP2 by next generation sequencing and copy number variation analyses and found no likely pathogenic mutations segregating with the disease. CNTNAP2 should be screened in genetically unsolved ADEAF families, but causative mutations are expected to be infrequent in this gene. PMID: 29179159
3. This study evaluated a possible association between ASD and the presence of five single nucleotide polymorph-isms (rs7794745, rs10500171, rs2710105,rs2710102, and rs2538989 ) in CNTNAP2in the Korean population. The genetic variants in CNTNAP2 do not play a role in ASD affection possibility in this study, but evidence suggests that one SNP(rs10500171) might be associated with sociality-relatedphenotypes in Koreans PMID: 27574960
4. In utero CASPR2-IgG exposed neonates achieved milestones similarly to healthy control-IgG exposed but, when adult, the CASPR2-IgG exposed progeny showed marked social interaction deficits, abnormally located glutamatergic neurons in layers V-VI of the somatosensory cortex, a 16% increase in activated microglia, and a 15-52% decrease in glutamatergic synapses in layers of the prefrontal and somatosensory cortices. PMID: 28755208
5. the selective distribution of Caspr2 and TAG-1 may be regulated, allowing them to modulate the strategic function of the Kv1 complex along axons PMID: 28533267
6. The clinical phenotypes of anti-LGI1 encephalitis and anti-Caspr2 encephalitis have been described in more detail including data on treatment and long-term follow-up. Lumping patients with anti-LGI1, anti-Caspr2 antibodies or lacking both, should be considered obsolete--{REVIEW} PMID: 28248701
7. Subjects with greater left dorsolateral prefrontal cortex (DLPFC) surface area had better cognitive performance. Importantly, the left DLPFC surface area mediated the association between the CNTNAP2 rs4726946 genotype and cognitive performance. This study provides the first evidence for associations among the CNTNAP2 gene, left DLPFC structure, and cognitive control. PMID: 27916731
8. associations of a common CNTNAP2 polymorphism (rs7794745) with variation in grey matter in a region in the dorsal visual stream PMID: 27059522
9. Bi-allelic aberrations (mutations and copy number variants) in CNTNAP2 in eight individuals with intellectual disability and epilepsy were reported. PMID: 27439707
10. Older age is a strong predictor of CNS involvement in patients seropositive for CASPR2-IgG or LGI1-IgG. Pain, peripheral manifestations, and stereotypic paroxysmal dizziness spells are common with LGI1-IgG. PMID: 28628235
11. Caspr2 antibodies associate with a treatable disorder that predominantly affects elderly men. The resulting syndrome may vary among patients but it usually includes a set of well-established symptoms. PMID: 27371488
12. The molecular shape and dimensions of CNTNAP2 place constraints on how CNTNAP2 integrates in the cleft of axo-glial and neuronal contact sites and how it functions as an organizing and adhesive molecule. PMID: 27621318
13. A significant association was found between rs7794745 CNTNAP2 gene polymorphism and autism in an Iranian population. PMID: 28284582
14. rs7794745 in the CNTNAP2 gene was associated with autistic spectrum disorder in Brazilian patients. PMID: 26909962
15. we could not detect any significant association with the CNTNAP2 gene and high functioning autism PMID: 26559825
16. CNTNAP2 is transcriptionally regulated by FOXP2. PMID: 26497390
17. Structurally, CASPR2 is highly glycosylated and has an overall compact architecture. CASPR2 associates with micromolar affinity with CNTN1 but, under the same conditions, it does not interact with any of the other members of the contactin family. PMID: 26721881
18. Results indicate that the CNTNAP2 gene may confer vulnerability to speech sound disorder PMID: 25895914
19. The study of zebrafish mutants of the ASD risk gene, CNTNAP2, and its differential responses to psychoactive agents reveals the strength of this approach to identify molecular mechanisms PMID: 26833134
20. Deletions within CNTNAP2 were found in two children with CAS but not in any of the children with SLI. These findings suggest that genetic variation within CNTNAP2 may be related to speech production deficits. PMID: 26097074
21. A genetic and functional characterization study of the CNTNAP2 promoter in autism spectrum disorders PMID: 25224256
22. A new male-specific association with aging is reported for a CNV in the CNTNAP2 gene. esv11910 ins allele was inversely associated with healthy aging in men. PMID: 25139204
23. We find no evidence for statistically significant association of rare heterozygous mutations in any of the CNTN or CNTNAP genes, including CNTNAP2, placing marked limits on the scale of their plausible contribution to risk. PMID: 25621974
24. Encompassing CNTNAP2 exon 3. PMID: 25045150
25. Study provides an improved estimate of the contribution of mutations in GNPTAB, GNPTG and NAGPA to persistent stuttering, and suggests that variants in FOXP2 and CNTNAP2 are not involved in the genesis of familial persistent stuttering PMID: 24807205
26. The role of CNTNAP2 in diverse neurological disorders. [Review] PMID: 23714751
27. Widespread cortex DNA methylation changes in CNTNAP2 since the human-chimpanzee split, supporting a role for CNTNAP2 fine-regulation in human-specific language and communication traits. PMID: 24434791
28. In demyelinating disease, major lesions in the three anti-contactin-associated protein 2 Ab-positive subjects were infratentorial, including one co-carrying anti-AQP4 Abs. PMID: 25027061
29. CNTNAP2 gene decreases the risk of alcohol addiction in female. PMID: 25041903
30. study suggests that although CNTNAP2 dysregulation plays a role in some cases, its population contribution to autism susceptibility is limited. PMID: 24147096
31. Homozygous deletions or gene mutations in CNTNAP2 and SMARCB1 associated with malignant rhabdoid tumors. PMID: 24418192
32. This study presented new evidence about the effects of CNTNAP2 on brain connectivity, whose disruption has been hypothesized to be central to schizophrenia pathophysiology. PMID: 23871450
33. The results of this study found that the genotypes of rs17236239 were significantly associated with schizophrenia and the alleles of rs2710102 and rs2710117 were significantly associated with major depression PMID: 23123147
34. No evidence for the association of FOXP2 and CNTNAP2 genes with language traits was observed in this analysis. PMID: 23277129
35. CNTNAP2 expression is downregulated by STOX1A in the hippocampus of Alzheimer's disease patients. PMID: 22728895
36. While both AA homozygotes and T-carriers showed a standard N400 effect to semantic anomalies, the response to subject-verb agreement violations differed across CNTNAP2 genotype groups PMID: 23115634
37. CASPR2 immunoglobulin G (IgG) seropositivity was associated with peripheral motor excitability. PMID: 23407760
38. these data indicate that CASPR2-D1129H has severe trafficking abnormalities and CASPR2-1253* is a secreted soluble protein, suggesting that the structural or signaling functions of the membrane tethered form are lost PMID: 22872700
39. We investigated the association between the SNPs rs2107856 and rs2141388 and PEX in Polish population. PMID: 22429864
40. Five genes have been directly disrupted in Tourette Syndrome by independent genomic rearrangements and copy number variations with unique breakpoints. PMID: 22948383
41. In graph theory analyses young adults with autism who are homozygous for the risk allele in CNTNAP2 have lower characteristic path length, greater small-worldness and global efficiency in whole brain analyses and greater eccentricity in regional analyses. PMID: 22500773
42. data suggest that in addition to the previously described role of CASPR2 in mature neurons, where CASPR2 organizes nodal microdomains of myelinated axons PMID: 23074245
43. The variants, rs1404699 and rs7803992, of CNTNAP2 are associated with exfoliation syndrome in the Japanese population. PMID: 22690117
44. Neurobiological, genetic, and imaging data provide strong evidence for the CNTNAP2 gene as a risk factor for ASD and related neurodevelopmental disorders. [Review] PMID: 22365836
45. risk associated variation in the CNTNAP2 gene impacts on brain activation in healthy non-autistic individuals during a language processing task providing evidence of the effect of genetic variation in CNTNAP2 on a core feature of autism spectrum disorders PMID: 21987501
46. The mutational testing found heterozygous splice-site, frameshift mutation and stop mutations in CNTNAP2 in four patients. PMID: 21827697
47. Our study suggests that common variants in the exon 13-15 region of CNTNAP2 influence early language acquisition, as assessed at age 2, in the general population. PMID: 21310003
48. For a number of genes affected by de novo copy number variants (CNVs) in autism (CNTNAP2, ZNF214, ARID1B, Proline Dehydrogenase), reduced transcript expression may be a mechanism of pathogenesis during neurodevelopment. PMID: 21448237
49. These findings suggest a partially shared etiology between autism spectrum disorders and selective mutism with at least some aspects being influenced by CNTNAP2. PMID: 21193173
50. Caspr2 is an autoantigen of encephalitis and peripheral nerve hyperexcitability previously attributed to voltage-gated potassium channels antibodies. PMID: 21387375

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HGNC: 13830

OMIM: 604569

KEGG: hsa:26047

STRING: 9606.ENSP00000354778

UniGene: Hs.655684