Evidence map›Paper›PMID 37015817›Full record

ArticleNeurology2023

Pathogenic

Wei Shern Lee, Emma Macdonald-Laurs, Sarah Stephenson, Colleen D'Arcy, Wirginia Maixner, A Simon Harvey, Paul J Lockhart, Richard J Leventer

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.9field-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

2 citing papers in PubMed, 5 citations in OpenAlex.

  1. Drug resistant epilepsy driven byEpilepsy & behavior reports · 2026
    Article
  2. 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

8 authors at 1 institution in 1 country.

Wei Shern LeeFrom the Bruce Lefroy Centre, Murdoch Children's Research Institute (W.S.L., S.S., P.J.L.); Department of Paediatrics (W.S.L., E.M-L., S.S., W.M., A.S.H., P.J.L., R.J.L.), The University of Melbourne; Department of Neurology (E.M-L., A.S.H., R.J.L.), The Royal Children's Hospital; Department of Anatomical Pathology (C.D.A.), The Royal Children's Hospital; Department of Neurosurgery (W.M.), The Royal Children's Hospital, Parkville, Australia.
Emma Macdonald-LaursFrom the Bruce Lefroy Centre, Murdoch Children's Research Institute (W.S.L., S.S., P.J.L.); Department of Paediatrics (W.S.L., E.M-L., S.S., W.M., A.S.H., P.J.L., R.J.L.), The University of Melbourne; Department of Neurology (E.M-L., A.S.H., R.J.L.), The Royal Children's Hospital; Department of Anatomical Pathology (C.D.A.), The Royal Children's Hospital; Department of Neurosurgery (W.M.), The Royal Children's Hospital, Parkville, Australia.
Sarah StephensonFrom the Bruce Lefroy Centre, Murdoch Children's Research Institute (W.S.L., S.S., P.J.L.); Department of Paediatrics (W.S.L., E.M-L., S.S., W.M., A.S.H., P.J.L., R.J.L.), The University of Melbourne; Department of Neurology (E.M-L., A.S.H., R.J.L.), The Royal Children's Hospital; Department of Anatomical Pathology (C.D.A.), The Royal Children's Hospital; Department of Neurosurgery (W.M.), The Royal Children's Hospital, Parkville, Australia.
Colleen D'ArcyFrom the Bruce Lefroy Centre, Murdoch Children's Research Institute (W.S.L., S.S., P.J.L.); Department of Paediatrics (W.S.L., E.M-L., S.S., W.M., A.S.H., P.J.L., R.J.L.), The University of Melbourne; Department of Neurology (E.M-L., A.S.H., R.J.L.), The Royal Children's Hospital; Department of Anatomical Pathology (C.D.A.), The Royal Children's Hospital; Department of Neurosurgery (W.M.), The Royal Children's Hospital, Parkville, Australia.
Wirginia MaixnerFrom the Bruce Lefroy Centre, Murdoch Children's Research Institute (W.S.L., S.S., P.J.L.); Department of Paediatrics (W.S.L., E.M-L., S.S., W.M., A.S.H., P.J.L., R.J.L.), The University of Melbourne; Department of Neurology (E.M-L., A.S.H., R.J.L.), The Royal Children's Hospital; Department of Anatomical Pathology (C.D.A.), The Royal Children's Hospital; Department of Neurosurgery (W.M.), The Royal Children's Hospital, Parkville, Australia.
A Simon HarveyFrom the Bruce Lefroy Centre, Murdoch Children's Research Institute (W.S.L., S.S., P.J.L.); Department of Paediatrics (W.S.L., E.M-L., S.S., W.M., A.S.H., P.J.L., R.J.L.), The University of Melbourne; Department of Neurology (E.M-L., A.S.H., R.J.L.), The Royal Children's Hospital; Department of Anatomical Pathology (C.D.A.), The Royal Children's Hospital; Department of Neurosurgery (W.M.), The Royal Children's Hospital, Parkville, Australia.
Paul J LockhartFrom the Bruce Lefroy Centre, Murdoch Children's Research Institute (W.S.L., S.S., P.J.L.); Department of Paediatrics (W.S.L., E.M-L., S.S., W.M., A.S.H., P.J.L., R.J.L.), The University of Melbourne; Department of Neurology (E.M-L., A.S.H., R.J.L.), The Royal Children's Hospital; Department of Anatomical Pathology (C.D.A.), The Royal Children's Hospital; Department of Neurosurgery (W.M.), The Royal Children's Hospital, Parkville, Australia.ORCID 0000-0003-2531-8413
Richard J LeventerFrom the Bruce Lefroy Centre, Murdoch Children's Research Institute (W.S.L., S.S., P.J.L.); Department of Paediatrics (W.S.L., E.M-L., S.S., W.M., A.S.H., P.J.L., R.J.L.), The University of Melbourne; Department of Neurology (E.M-L., A.S.H., R.J.L.), The Royal Children's Hospital; Department of Anatomical Pathology (C.D.A.), The Royal Children's Hospital; Department of Neurosurgery (W.M.), The Royal Children's Hospital, Parkville, Australia. richard.leventer@rch.org.au.
Royal Children's Hospital · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveTo describe a child meeting diagnostic criteria for tuberous sclerosis complex (TSC) carrying a pathogenic somatic variant in

methodsWe present the clinical and imaging findings in a child presenting with drug-resistant focal seizures and multiple cortical tubers, a subependymal giant cell astrocytoma and multiple subependymal nodules in 1 cerebral hemisphere. Targeted panel sequencing and exome sequencing were performed on genomic DNA derived from blood and resected tuber tissue.

resultsThe child satisfied clinical diagnostic criteria for TSC, having 3 major features, only 2 of which are required for diagnosis. Genetic testing did not identify pathogenic variants or copy number variations in DISCUSSION: RHEB is a partner of the TSC1/2 complex in the mechanistic target of rapamycin pathway. Somatic variants in

Indexed as

Tuberous SclerosisTumor Suppressor ProteinsChildDNA Copy Number VariationsHumansMutationRas Homolog Enriched in Brain ProteinTuberous Sclerosis Complex 1 ProteinTuberous Sclerosis Complex 2 ProteinRas Homolog Enriched in Brain ProteinRHEB protein, humanTuberous Sclerosis Complex 1 ProteinTuberous Sclerosis Complex 2 ProteinTumor Suppressor Proteins

Identifiers

PMID37015817
PMCPMC10351555
OpenAlexW4362594682

What OpenQuestion holds

Textmetadata
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.