Evidence map›Paper›PMID 25237665›Full record

ReviewFrontiers in pediatrics2014

Involvement of synaptic genes in the pathogenesis of autism spectrum disorders: the case of synapsins.

Silvia Giovedí, Anna Corradi, Anna Fassio, Fabio Benfenati

Open access · goldAbstract readReview
In one paragraph

Review in Frontiers in pediatrics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
50citing papers in PubMed, 1 pooled it
4.9field-weighted citation impact, top 5% 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

50 citing papers in PubMed, 1 synthesis or guideline pooled it, 76 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors at 2 institutions in 1 country.

Silvia GiovedíDepartment of Experimental Medicine, University of Genova , Genova , Italy.
Anna CorradiDepartment of Experimental Medicine, University of Genova , Genova , Italy.
Anna FassioDepartment of Experimental Medicine, University of Genova , Genova , Italy ; Department of Neuroscience and Brain Technologies, Fondazione Istituto Italiano di Tecnologia , Genova , Italy.
Fabio BenfenatiDepartment of Experimental Medicine, University of Genova , Genova , Italy ; Department of Neuroscience and Brain Technologies, Fondazione Istituto Italiano di Tecnologia , Genova , Italy.
University of Genoa · ITItalian Institute of Technology · IT

Funding

Telethon GGP09134Telethon GGP13033
6 · The paper itself

Abstract

Autism spectrum disorders (ASDs) are heterogeneous neurodevelopmental disorders characterized by deficits in social interaction and social communication, restricted interests, and repetitive behaviors. Many synaptic protein genes are linked to the pathogenesis of ASDs, making them prototypical synaptopathies. An array of mutations in the synapsin (Syn) genes in humans has been recently associated with ASD and epilepsy, diseases that display a frequent comorbidity. Syns are pre-synaptic proteins regulating synaptic vesicle traffic, neurotransmitter release, and short-term synaptic plasticity. In doing so, Syn isoforms control the tone of activity of neural circuits and the balance between excitation and inhibition. As ASD pathogenesis is believed to result from dysfunctions in the balance between excitatory and inhibitory transmissions in neocortical areas, Syns are novel ASD candidate genes. Accordingly, deletion of single Syn genes in mice, in addition to epilepsy, causes core symptoms of ASD by affecting social behavior, social communication, and repetitive behaviors. Thus, Syn knockout mice represent a good experimental model to define synaptic alterations involved in the pathogenesis of ASD and epilepsy.

Indexed as

autismhuman mutationsknockout micesocial behaviorsynaptic transmissionsynaptic vesiclessynaptopathies

Identifiers

PMID25237665
PMCPMC4154395
OpenAlexW2022717902

What OpenQuestion holds

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Registered trials

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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.