ArticleMolecular syndromology2012
Severe Intellectual Disability Associated with Recessive Defects in CNTNAP2 and NRXN1.
Article in Molecular syndromology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
14 citing papers in PubMed, 20 citations in OpenAlex.
- Multi-omics study reveals differential expression and phosphorylation of autophagy-related proteins in autism spectrum disorder.Scientific reports · 2025Article
- Investigating behavioral phenotypes related to autism spectrum disorder in a gene-environment interaction model ofFrontiers in neuroscience · 2023Article
- The Roles of Par3, Par6, and aPKC Polarity Proteins in Normal Neurodevelopment and in Neurodegenerative and Neuropsychiatric Disorders.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2022Review
- The Role of CNTNAP2 in Itch Sensation.The Journal of investigative dermatology · 2022Article
- A NovelFrontiers in neurology · 2021Article
- Williams Syndrome, Human Self-Domestication, and Language Evolution.Frontiers in psychology · 2019Article
- Mouse Cntnap2 and Human CNTNAP2 ASD Alleles Cell Autonomously Regulate PV+ Cortical Interneurons.Cerebral cortex (New York, N.Y. : 1991) · 2018Article
- Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis.Journal of child neurology · 2018Article
- IntragenicMolecular syndromology · 2017Review
- Molecular Architecture of Contactin-associated Protein-like 2 (CNTNAP2) and Its Interaction with Contactin 2 (CNTN2).The Journal of biological chemistry · 2016Article
- Exome sequencing in an admixed isolated population indicates NFXL1 variants confer a risk for specific language impairment.PLoS genetics · 2015Article
- Article
- Widespread differences in cortex DNA methylation of the "language gene" CNTNAP2 between humans and chimpanzees.Epigenetics · 2014Article
- Genetic insights into the functional elements of language.Human genetics · 2013Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
While heterozygous variants in CNTNAP2 and NRXN1 are reported as susceptibility factors for neuropsychiatric disorders, homozygous or compound heterozygous defects in either gene were reported as causative for severe neurodevelopmental disorders. This review provides an overview of the clinical aspects in patients with recessive defects in CNTNAP2 and NRXN1.
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.