Evidence map›Paper›PMID 31772215›Full record

ArticleScientific reports2019

Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation.

Michael G Thor, Vinojini Vivekanandam, Marisol Sampedro-Castañeda, S Veronica Tan, Karen Suetterlin, Richa Sud, Siobhan Durran, Stephanie Schorge, Dimitri M Kullmann, Michael G Hanna and 2 more

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 11 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed, 1 pooled it
0.9field-weighted citation impact, top 26% 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

11 citing papers in PubMed, 1 synthesis or guideline pooled it, 17 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Periodic paralysis.Handbook of clinical neurology · 2024
    Review
  4. Case report: A novelFrontiers in neurology · 2023
    Article
  5. Article
  6. Article
  7. Review
  8. Skeletal muscle ClC-1 chloride channels in health and diseases.Pflugers Archiv : European journal of physiology · 2020
    Review
  9. Article
  10. Article
  11. 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

12 authors at 4 institutions in 1 country.

Michael G ThorMRC Centre for Neuromuscular Diseases, Department of Neuromuscular diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Vinojini VivekanandamMRC Centre for Neuromuscular Diseases, Department of Neuromuscular diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Marisol Sampedro-CastañedaMRC Centre for Neuromuscular Diseases, Department of Neuromuscular diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.ORCID http://orcid.org/0000-0002-4338-0686
S Veronica TanMRC Centre for Neuromuscular Diseases, Department of Neuromuscular diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Karen SuetterlinMRC Centre for Neuromuscular Diseases, Department of Neuromuscular diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Richa SudMRC Centre for Neuromuscular Diseases, Department of Neuromuscular diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Siobhan DurranMRC Centre for Neuromuscular Diseases, Department of Neuromuscular diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Stephanie SchorgeDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Dimitri M KullmannDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Michael G HannaMRC Centre for Neuromuscular Diseases, Department of Neuromuscular diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Emma MatthewsMRC Centre for Neuromuscular Diseases, Department of Neuromuscular diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Roope MännikköMRC Centre for Neuromuscular Diseases, Department of Neuromuscular diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK. r.mannikko@ucl.ac.uk.ORCID http://orcid.org/0000-0002-8727-9184
National Hospital for Neurology and Neurosurgery · GBGuy's and St Thomas' NHS Foundation Trust · GBMRC Prion Unit · GBThe Francis Crick Institute · GB

Funding

Medical Research Council G0200373Medical Research Council G0400136Medical Research Council G0400627Medical Research Council G0600368Medical Research Council G0601440Medical Research Council G0801316Medical Research Council G0900613Medical Research Council G116/147Medical Research Council G9805989Medical Research Council MR/L01095X/1Medical Research Council MR/M006948/1Medical Research Council MR/M01827X/1Wellcome Trust 209583/Z/17/ZWellcome Trust 209807/Z/17/ZWellcome Trust 212285/Z/18/ZWellcome Trust (Wellcome) 209583/Z/17/Z
6 · The paper itself

Abstract

The sarcolemmal voltage gated sodium channel Na

Indexed as

AdolescentArginineChloride ChannelsHEK293 CellsHigh-Throughput Nucleotide SequencingHumansHypokalemic Periodic ParalysisMaleMutationMyotoniaNAV1.4 Voltage-Gated Sodium ChannelArginineChloride ChannelsCLC-1 channelNAV1.4 Voltage-Gated Sodium ChannelSCN4A protein, human

Identifiers

PMID31772215
PMCPMC6879752
OpenAlexW2991428082

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.