Evidence map›Paper›PMID 33024953›Full record

ArticleEpilepsy & behavior reports2020

Moyamoya and progressive myoclonic epilepsy secondary to

Jamie Talbot, Priyanka Singh, Clinda Puvirajasinghe, Genomics England Research Consortiumgecip-help@genomicsengland.co.uk, Sanjay M Sisodiya, Fergus Rugg-Gunn

Open access · goldAbstract readCase Reports
In one paragraph

Article in Epilepsy & behavior reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.6field-weighted citation impact, top 32% 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

4 citing papers in PubMed, 9 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Article
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

6 authors at 2 institutions in 1 country.

Jamie TalbotDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK.
Priyanka SinghDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK.
Clinda PuvirajasingheRare & Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, Levels 4-6 Barclay House, 37, Queen Square, London WC1N 3BH, UK.
Genomics England Research Consortiumgecip-help@genomicsengland.co.uk
Sanjay M SisodiyaDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK.
Fergus Rugg-GunnDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK.
National Hospital for Neurology and Neurosurgery · GBUniversity College London · GB

Funding

Wellcome Trust
6 · The paper itself

Abstract

The neuronal ceroid lipofuscinoses (NCL) are a collection of lysosomal storage diseases characterised by the accumulation of characteristic inclusions containing lipofuscin in various tissues of the body and are one of the causes of progressive myoclonic epilepsy. Mutations in at least thirteen genes have been identified as causes of NCL, which can present as infantile, late-infantile, juvenile or adult forms.

Indexed as

ANCLANCL, adult neuronal ceroid lipofuscinosisBMIPB, the Brain Injury Rehabilitation Trust Memory and Information Processing BatteryCLN6Kufs diseaseLINCL, late-infantile neuronal ceroid lipofuscinosisMERRF, mitochondrial epilepsy with ragged red fibresMoyamoyamtDNA, mitochondrial DNANCLNCL, neuronal ceroid lipofuscinosisNeuronal ceroid lipofuscinosisPPT1, palmitoyl-protein thioesterase 1SEP, somatosensory evoked potentialsTPP1, tripeptidyl peptidase 1WAIS-IV, Wechsler Adult Intelligence Scale (4th edition)Wiegl, Weigl Color Form Sorting Test

Identifiers

PMID33024953
PMCPMC7528204
OpenAlexW3081579370

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.