Evidence map›Paper›PMID 30692144›Full record

ArticleDisease models & mechanisms2019

Loss of

Michelle Stewart, Petrina Lau, Gareth Banks, Rasneer Sonia Bains, Enrico Castroflorio, Peter L Oliver, Christine L Dixon, Michael C Kruer, Dimitri M Kullmann, Abraham Acevedo-Arozena and 3 more

Open access · goldAbstract read
In one paragraph

Article in Disease models & mechanisms, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.

0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed
2.2field-weighted citation impact, top 13% 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

17 citing papers in PubMed, 30 citations in OpenAlex.

  1. Genetics of epilepsy.Experimental biology and medicine (Maywood, N.J.) · 2026
    Review
  2. Comprehensive characterization of the RNA editing landscape in the human aging brains with Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025
    Article
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  14. Boricua Founder Variant inJournal of child neurology · 2021
    Article
  15. Article
  16. Article
  17. Fluoride Exposure Induces Inhibition of Sodium-and Potassium-Activated Adenosine Triphosphatase (NaInternational journal of environmental research and public health · 2019
    Review
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

13 authors at 4 institutions in 3 countries.

Michelle StewartMRC Harwell Institute, Harwell Campus, Oxfordshire OX11 0RD, UK.
Petrina LauMRC Harwell Institute, Harwell Campus, Oxfordshire OX11 0RD, UK.
Gareth BanksMRC Harwell Institute, Harwell Campus, Oxfordshire OX11 0RD, UK.
Rasneer Sonia BainsMRC Harwell Institute, Harwell Campus, Oxfordshire OX11 0RD, UK.
Enrico CastroflorioMRC Harwell Institute, Harwell Campus, Oxfordshire OX11 0RD, UK.
Peter L OliverMRC Harwell Institute, Harwell Campus, Oxfordshire OX11 0RD, UK.
Christine L DixonDepartment of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.
Michael C KruerBarrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85013, USA.
Dimitri M KullmannDepartment of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.
Abraham Acevedo-ArozenaUnidad de Investigación Hospital Universitario de Canarias, La Laguna 38320, Spain.
Sara E WellsMRC Harwell Institute, Harwell Campus, Oxfordshire OX11 0RD, UK.
Silvia CorrochanoMRC Harwell Institute, Harwell Campus, Oxfordshire OX11 0RD, UK s.corrochano@har.mrc.ac.uk p.nolan@har.mrc.ac.uk.ORCID 0000-0003-0958-0083
Patrick M NolanMRC Harwell Institute, Harwell Campus, Oxfordshire OX11 0RD, UK s.corrochano@har.mrc.ac.uk p.nolan@har.mrc.ac.uk.ORCID 0000-0001-5550-0334
Mary Lyon Centre at MRC Harwell · GBNational Hospital for Neurology and Neurosurgery · GBBarrow Neurological Institute · USHospital Universitario de Canarias · ES

Funding

UM1HG006348: Cas9 Genome Integrity Supplemental ProposalUM1HG006348 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI Jason D. Heaney, Chih-Wei Logan Hsu · 2016 to 2026
$47.5M
Medical Research Council G116/147Medical Research Council MC_EX_MR/P502005/1Medical Research Council MC_U142684173Medical Research Council MC_UP_1502/1Medical Research Council MC_UP_A390_1106Medical Research Council MR/L01095X/1NHGRI NIH HHS UM1 HG006348Wellcome Trust 212285/Z/18/Z
6 · The paper itself

Abstract

Loss-of-function mutations in a human AMPA receptor-associated protein, ferric chelate reductase 1-like (FRRS1L), are associated with a devastating neurological condition incorporating choreoathetosis, cognitive deficits and epileptic encephalopathies. Furthermore, evidence from overexpression and

Indexed as

CognitionElectrophysiological PhenomenaMotor ActivityAnimalsAnimals, NewbornBody SizeBrainCognition DisordersCytoplasmGlycosylationMembrane ProteinsMice, Inbred C57BLNerve Tissue ProteinsNervous SystemReceptors, AMPASleepFrrs1l protein, mouseMembrane ProteinsNerve Tissue ProteinsReceptors, AMPAAMPA receptorsBehaviourFrrs1lMouse modelSeizures

Identifiers

PMID30692144
PMCPMC6398485
OpenAlexW2951239762

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.