Evidence map›Paper›PMID 31844109›Full record

ArticleScientific reports2019

Damaging coding variants within kainate receptor channel genes are enriched in individuals with schizophrenia, autism and intellectual disabilities.

Maria Koromina, Miles Flitton, Alix Blockley, Ian R Mellor, Helen M Knight

Open access · goldAbstract read
In one paragraph

Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
0.8field-weighted citation impact, top 28% 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

13 citing papers in PubMed, 19 citations in OpenAlex.

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  7. Mechanisms of neurodevelopmental toxicity of topiramate.Critical reviews in toxicology · 2024
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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

5 authors at 1 institution in 1 country.

Maria KorominaSchool of Life Sciences, University of Nottingham, Nottingham, NG7 2UH, UK.
Miles FlittonSchool of Life Sciences, University of Nottingham, Nottingham, NG7 2UH, UK.
Alix BlockleySchool of Life Sciences, University of Nottingham, Nottingham, NG7 2UH, UK.
Ian R MellorSchool of Life Sciences, University of Nottingham, Nottingham, NG7 2UH, UK.
Helen M KnightSchool of Life Sciences, University of Nottingham, Nottingham, NG7 2UH, UK. Helen.Knight@nottingham.ac.uk.
University of Nottingham · GB

Funding

Department of HealthMedical Research CouncilWellcome TrustWellcome Trust WT091310
6 · The paper itself

Abstract

Schizophrenia (Scz), autism spectrum disorder (ASD) and intellectual disability are common complex neurodevelopmental disorders. Kainate receptors (KARs) are ionotropic glutamate ion channels involved in synaptic plasticity which are modulated by auxiliary NETO proteins. Using UK10K exome sequencing data, we interrogated the coding regions of KAR and NETO genes in individuals with Scz, ASD or intellectual disability and population controls; performed follow-up genetic replication studies; and, conducted in silico and in vitro functional studies. We found an excess of Loss-of-Function and missense variants in individuals with Scz compared with control individuals (p = 1.8 × 10

Indexed as

Autism Spectrum DisorderAutistic DisorderExomeHumansIntellectual DisabilityKainic Acid ReceptorsMutation, MissenseSchizophreniaKainic Acid Receptors

Identifiers

PMID31844109
PMCPMC6915710
OpenAlexW2995646922

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.