Evidence map›Paper›PMID 30838349›Full record

ArticleActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology2018

Kir2.2 p.Thr140Met: a genetic susceptibility to sporadic periodic paralysis.

Chunxiang Fan, Marius Kuhn, Alexander Pepler Mbiol, James Groome, Vern Winston, Saskia Biskup, Frank Lehmann-Horn, Karin Jurkat-Rott

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

Article in Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2018. 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
0.1field-weighted citation impact, top 50% 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, 3 citations in OpenAlex.

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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

8 authors at 4 institutions in 2 countries.

Chunxiang FanDivision of Neurophysiology, Ulm University, Germany.
Marius KuhnGenetikum, Neu-Ulm, Germany.
Alexander Pepler MbiolCeGaT GmbH, Tübingen, Germany.
James GroomeDepartment of Biological Sciences, Idaho State University, Pocatello, USA.
Vern WinstonDepartment of Biological Sciences, Idaho State University, Pocatello, USA.
Saskia BiskupCeGaT GmbH, Tübingen, Germany.
Frank Lehmann-HornDivision of Neurophysiology, Ulm University, Germany.
Karin Jurkat-RottDivision of Neurophysiology, Ulm University, Germany.
Universität Ulm · DECeGaT (Germany) · DEIdaho State University · USGenetikum · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionPeriodic paralyses (PP) are recurrent episodes of flaccid limb muscle weakness. Next to autosomal dominant forms, sporadic PP (SPP) cases are known but their genetics are unclear.

methodsIn a patient with hypokalemic SPP, we performed exome sequencing to identify a candidate gene. We sequenced this gene in 263 unrelated PP patients without any known causative mutations. Then we performed functional analysis of all variants found and molecular modelling for interpretation.

resultsExome sequencing in the proband yielded three heterozygous variants predicted to be linked to disease. These encoded p.Thr140Met in the Kir2.2 potassium channel, p.Asp229Asn in protein kinase C theta, and p.Thr15943Ile in titin. Since all hitherto known causative PP genes code for ion channels, we studied the Kir2.2-encoding gene, DISCUSSION: The electrophysiological findings of p.Thr140Met are similar to those found in thyrotoxic PP caused by Kir2.6 mutations. Also, the homologous Thr140 residue is mutated in Kir2.6. This supports the idea that Kir2.2 p.Thr140Met conveys susceptibility to SPP and should be included in genetic screening.

Indexed as

AdolescentAdultComputer SimulationElectrophysiologyExome SequencingGenetic Predisposition to DiseaseHumansHypokalemic Periodic ParalysisMaleMiddle AgedModels, MolecularParalyses, Familial PeriodicPotassium Channels, Inwardly RectifyingKir2.2 channelPotassium Channels, Inwardly Rectifyinghetero-tetramerKir2.1 channelKir2.2 channelperiodic paralysissusceptibility gene

Identifiers

PMID30838349
PMCPMC6390110
OpenAlexW2911204054

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.