Evidence map›Paper›PMID 28330959›Full record

ArticleNeurology2017

Predominantly myalgic phenotype caused by the c.3466G>A p.A1156T mutation in

Johanna Palmio, Satu Sandell, Michael G Hanna, Roope Männikkö, Sini Penttilä, Bjarne Udd

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

Article in Neurology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
1.1field-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

12 citing papers in PubMed, 21 citations in OpenAlex.

  1. Article
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  5. Neurology · 2023
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  8. New phenotype of severe neonatal episodic laryngospasm due to a missense mutation in SCN4A: A case report and literature review.Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2021
    Review
  9. Article
  10. Possible role ofEpilepsia open · 2019
    Article
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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

6 authors at 2 institutions in 3 countries.

Johanna PalmioFrom the Neuromuscular Research Center (J.P., S.P., B.U.), Department of Neurology, Tampere University and University Hospital, Neurology; Seinäjoki Central Hospital (S.S.), Department of Neurology, Finland; MRC Centre for Neuromuscular Disease (M.G.H., R.M.), UCL Institute of Neurology, Queen Square, London, UK; Folkhälsan Institute of Genetics and the Department of Medical Genetics (B.U.), Haartman Institute, University of Helsinki; and Vaasa Central Hospital (B.U.), Department of Neurology, Finland. johanna.palmio@uta.fi.
Satu SandellFrom the Neuromuscular Research Center (J.P., S.P., B.U.), Department of Neurology, Tampere University and University Hospital, Neurology; Seinäjoki Central Hospital (S.S.), Department of Neurology, Finland; MRC Centre for Neuromuscular Disease (M.G.H., R.M.), UCL Institute of Neurology, Queen Square, London, UK; Folkhälsan Institute of Genetics and the Department of Medical Genetics (B.U.), Haartman Institute, University of Helsinki; and Vaasa Central Hospital (B.U.), Department of Neurology, Finland.
Michael G HannaFrom the Neuromuscular Research Center (J.P., S.P., B.U.), Department of Neurology, Tampere University and University Hospital, Neurology; Seinäjoki Central Hospital (S.S.), Department of Neurology, Finland; MRC Centre for Neuromuscular Disease (M.G.H., R.M.), UCL Institute of Neurology, Queen Square, London, UK; Folkhälsan Institute of Genetics and the Department of Medical Genetics (B.U.), Haartman Institute, University of Helsinki; and Vaasa Central Hospital (B.U.), Department of Neurology, Finland.
Roope MännikköFrom the Neuromuscular Research Center (J.P., S.P., B.U.), Department of Neurology, Tampere University and University Hospital, Neurology; Seinäjoki Central Hospital (S.S.), Department of Neurology, Finland; MRC Centre for Neuromuscular Disease (M.G.H., R.M.), UCL Institute of Neurology, Queen Square, London, UK; Folkhälsan Institute of Genetics and the Department of Medical Genetics (B.U.), Haartman Institute, University of Helsinki; and Vaasa Central Hospital (B.U.), Department of Neurology, Finland.
Sini PenttiläFrom the Neuromuscular Research Center (J.P., S.P., B.U.), Department of Neurology, Tampere University and University Hospital, Neurology; Seinäjoki Central Hospital (S.S.), Department of Neurology, Finland; MRC Centre for Neuromuscular Disease (M.G.H., R.M.), UCL Institute of Neurology, Queen Square, London, UK; Folkhälsan Institute of Genetics and the Department of Medical Genetics (B.U.), Haartman Institute, University of Helsinki; and Vaasa Central Hospital (B.U.), Department of Neurology, Finland.
Bjarne UddFrom the Neuromuscular Research Center (J.P., S.P., B.U.), Department of Neurology, Tampere University and University Hospital, Neurology; Seinäjoki Central Hospital (S.S.), Department of Neurology, Finland; MRC Centre for Neuromuscular Disease (M.G.H., R.M.), UCL Institute of Neurology, Queen Square, London, UK; Folkhälsan Institute of Genetics and the Department of Medical Genetics (B.U.), Haartman Institute, University of Helsinki; and Vaasa Central Hospital (B.U.), Department of Neurology, Finland.
University College London · GBTampere University · FI

Funding

Medical Research Council MR/K000608/1Medical Research Council MR/M006948/1
6 · The paper itself

Abstract

objectiveTo characterize the clinical phenotype in patients with p.A1156T sodium channel mutation.

methodsTwenty-nine Finnish patients identified with the c.3466G>A p.A1156T mutation in the

resultsThe main clinical manifestation in p.A1156T patients was not myotonia or periodic paralysis but exercise- and cold-induced muscle cramps, muscle stiffness, and myalgia. EMG myotonic discharges were detected in most but not all. Electrophysiologic compound muscle action potentials exercise test showed variable results. The p.A1156T mutation was identified in one patient in the DM2-neg group but not in the fibromyalgia group, making a total of 30 patients so far identified. Functional studies of the p.A1156T mutation showed mild attenuation of channel fast inactivation.

conclusionsThe unspecific symptoms of myalgia stiffness and exercise intolerance without clinical myotonia or periodic paralysis in p.A1156T patients make the diagnosis challenging. The symptoms of milder

Indexed as

MutationAdolescentAdultChildChild, PreschoolCohort StudiesDNA Mutational AnalysisFamilyFemaleFibromyalgiaFinlandHEK293 CellsHumansMaleMiddle AgedMyalgiaNAV1.4 Voltage-Gated Sodium ChannelSCN4A protein, human

Identifiers

PMID28330959
PMCPMC5395072
OpenAlexW2602159684

What OpenQuestion holds

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Registered trials

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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.