Contactin Associated Protein-Like 2 (CNTNAP2) ELISA Kits

Human Contactin Associated Protein-Like 2 (CNTNAP2) Interaktionspartner

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.

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.

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

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.

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

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}

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.

8. associations of a common CNTNAP2 polymorphism (rs7794745) with variation in grey matter in a region in the dorsal visual stream

9. Bi-allelic aberrations (mutations and copy number variants) in CNTNAP2 in eight individuals with intellectual disability and epilepsy were reported.

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.

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.

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.

13. A significant association was found between rs7794745 CNTNAP2 gene polymorphism and autism in an Iranian population.

14. rs7794745 in the CNTNAP2 gene was associated with autistic spectrum disorder in Brazilian patients.

15. we could not detect any significant association with the CNTNAP2 gene and high functioning autism

16. CNTNAP2 is transcriptionally regulated by FOXP2.

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.

18. Results indicate that the CNTNAP2 gene may confer vulnerability to speech sound disorder

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

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.

Mouse (Murine) Contactin Associated Protein-Like 2 (CNTNAP2) Interaktionspartner

1. This study demonstrated an age-dependent effect of Cntnap2 deletion on both tonic and phasic inhibition in layer 2/3 pyramidal cells in the visual cortex.

2. native medial prefrontal cortex parvalbumin neuronal activity differed between CNTNAP2 knockout and wild-type mice.

3. Caspr2/Caspr1 double mutants results in muscle fiber degeneration accompanied by mitochondrial dysfunction.

4. Cntnap2 KO rats exhibited severe motor seizures, hyperactivity, and increased consolidation of wakefulness and REM sleep. By contrast, Cntnap2 KO mice demonstrated absence seizure-like events, hypoactivity, and wake fragmentation.

5. After middle cerebral artery occlusion mice demonstrate profoundly impaired socially evoked USVs. In addition, there is suppression of the language-associated transcription factor,contactin-associated protein 2 (Cntnap2).

6. These findings suggest that contactin-associated-like-protein 2 may influence the development of neural systems important to learning and cross-modal integration, and that disruption of this function could be associated with delayed learning in autism spectrum disorder.

7. Olfaction-based behavioral tests revealed that mice lacking Caspr2 exhibit abnormal response to sensory stimuli and lack preference for novel odors.

8. Mice with the Cntnap2 genetic mutation showed a dissociation of auditory-processing abilities

9. Study reports behavioral characterization of mouse models of autism with null mutation in Cntnap2 gene. It shows hyperactivity, mild gait phenotype and reduced vocalizations among others.

10. new dendritic spines in mice lacking CNTNAP2 were formed at normal rates, but failed to stabilize. Notably, rates of spine elimination were unaltered, suggesting a specific role for CNTNAP2 in stabilizing new synaptic circuitry

11. Cntnap2 deletion selectively impairs perisomatic hippocampal inhibition while sparing excitation provide additional support for synaptic dysfunction as a common mechanism underlying autism spectrum disorders

12. The CASPR2/MUPP1 receptor complex co-localized with GPR37 in hippocampal neurons.

13. Interaction proteomics revealed the interactors of Caspr2, including CNTN2, KCNAs, members of the ADAM family (ADAM22, ADAM23 and ADAM11), members of LGI family and MAGUKs (DLGs and MPPs).

14. CNTNAP2 has a role in the correct trafficking of GluA1 AMPA-type glutamate receptors

15. Caspr2 is required for paranodal clustering of Kv1 channels in the absence of Caspr. Absence of both Caspr and Caspr2 results in the widening of the nodes of Ranvier.

16. two novel genes, Cntnap2 and Tag1, are implicated in the regulation of diet-induced obesity.

17. these observations suggest that Foxp2 may regulate ultrasonic vocalization by associating with CtBP in Purkinje cells

18. Data demonstrate a functional role for CNTNAP2 in brain development