Evidence map›Paper›PMID 21962519›Full record

ArticleCell2011

Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits.

Olga Peñagarikano, Brett S Abrahams, Edward I Herman, Kellen D Winden, Amos Gdalyahu, Hongmei Dong, Lisa I Sonnenblick, Robin Gruver, Joel Almajano, Anatol Bragin and 4 more

Open access · bronzeAbstract read
In one paragraph

Article in Cell, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 645 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
645citing papers in PubMed, 3 pooled it
36.0field-weighted citation impact, top 1% of its field
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

645 citing papers in PubMed, 3 syntheses or guidelines pooled it, 1,067 citations in OpenAlex.

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585 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

14 authors at 3 institutions in 2 countries.

Olga PeñagarikanoProgram in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
Brett S Abrahams
Edward I Herman
Kellen D Winden
Amos Gdalyahu
Hongmei Dong
Lisa I Sonnenblick
Robin Gruver
Joel Almajano
Anatol Bragin
Peyman Golshani
Joshua T Trachtenberg
Elior Peles
Daniel H Geschwind
University of California, Los Angeles · USCenter for Autism and Related Disorders · USWeizmann Institute of Science · IL

Funding

Understanding Repetitive Behavior in AutismP50HD055784 · NICHD · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI BOOKHEIMER, SUSAN Y · 2007 to 2021
$32.0M
A Comprehensive Approach to Identification of Autism Susceptibility GenesR01MH081754 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI GESCHWIND, DANIEL H · 2008 to 2012
$14.6M
Role of three novel CAMs in myelinating gliaR01NS050220 · NINDS · WEIZMANN INSTITUTE OF SCIENCE · PI PELES, ELIOR · 2005 to 2015
$1.6M
NICHD NIH HHS 1P50-HD055784-01NICHD NIH HHS P50 HD055784NIMH NIH HHS 5R01-MH081754-04NIMH NIH HHS R01 MH081754NIMH NIH HHS R01 MH081754-02RNINDS NIH HHS NS50220NINDS NIH HHS R01 NS050220
6 · The paper itself

Abstract

Although many genes predisposing to autism spectrum disorders (ASD) have been identified, the biological mechanism(s) remain unclear. Mouse models based on human disease-causing mutations provide the potential for understanding gene function and novel treatment development. Here, we characterize a mouse knockout of the Cntnap2 gene, which is strongly associated with ASD and allied neurodevelopmental disorders. Cntnap2(-/-) mice show deficits in the three core ASD behavioral domains, as well as hyperactivity and epileptic seizures, as have been reported in humans with CNTNAP2 mutations. Neuropathological and physiological analyses of these mice before the onset of seizures reveal neuronal migration abnormalities, reduced number of interneurons, and abnormal neuronal network activity. In addition, treatment with the FDA-approved drug risperidone ameliorates the targeted repetitive behaviors in the mutant mice. These data demonstrate a functional role for CNTNAP2 in brain development and provide a new tool for mechanistic and therapeutic research in ASD.

Indexed as

Disease Models, AnimalMiceAnimalsAutistic DisorderBrainCell MovementEpilepsyHumansInterneuronsMembrane ProteinsMice, KnockoutNerve Tissue ProteinsNeuronsCNTNAP2 protein, humanCNTNAP2 protein, mouseMembrane ProteinsNerve Tissue Proteins

Identifiers

PMID21962519
PMCPMC3390029
OpenAlexW2099756187

What OpenQuestion holds

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Read underepoch 390

Registered trials

None linked

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.