Evidence map›Paper›PMID 27598514›Full record

ArticlePloS one2016

SCN10A Mutation in a Patient with Erythromelalgia Enhances C-Fiber Activity Dependent Slowing.

Andreas M Kist, Dagrun Sagafos, Anthony M Rush, Cristian Neacsu, Esther Eberhardt, Roland Schmidt, Lars Kristian Lunden, Kristin Ørstavik, Luisa Kaluza, Jannis Meents and 11 more

Open access · goldAbstract readCase Reports
In one paragraph

Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.

0numbers the graph read from it
0cells of the map it votes in
27citing papers in PubMed
3.3field-weighted citation impact, top 8% 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

27 citing papers in PubMed, 52 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Shaping the Action Potential in Dorsal Root and Trigeminal Ganglia Neurons: Relevance to Pain Mechanisms.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2026
    Review
  5. Article
  6. NaBrain communications · 2026
    Article
  7. Review
  8. Review
  9. Article
  10. Article
  11. Peripheral temperature dysregulation associated with functionally altered NaPflugers Archiv : European journal of physiology · 2023
    Article
  12. Article
  13. Article
  14. Genetic pain loss disorders.Nature reviews. Disease primers · 2022
    Review
  15. Article
  16. Review
  17. Article
  18. The Potential Effect of NaFrontiers in molecular neuroscience · 2021
    Article
  19. Article
  20. 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

21 authors at 7 institutions in 4 countries.

Andreas M KistInstitute of Physiology and Pathophysiology, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
Dagrun SagafosSection of Clinical Neurophysiology, Department of Neurology, Oslo University Hospital -Rikshospitalet, Oslo, Norway.
Anthony M RushAstraZeneca R&D, Södertälje, Sweden.
Cristian NeacsuInstitute of Physiology and Pathophysiology, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
Esther EberhardtInstitute of Physiology and Pathophysiology, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
Roland SchmidtDepartment of Neuroscience, Clinical Neurophysiology, Uppsala University, Uppsala, Sweden.
Lars Kristian LundenSection of Clinical Neurophysiology, Department of Neurology, Oslo University Hospital -Rikshospitalet, Oslo, Norway.
Kristin ØrstavikSection of Clinical Neurophysiology, Department of Neurology, Oslo University Hospital -Rikshospitalet, Oslo, Norway.
Luisa KaluzaInstitute of Physiology, RWTH Aachen University Hospital, Aachen, Germany.
Jannis MeentsInstitute of Physiology, RWTH Aachen University Hospital, Aachen, Germany.
Zhiping ZhangAstraZeneca R&D, Södertälje, Sweden.
Thomas Hedley CarrAstraZeneca R&D, Cambridge, United Kingdom.
Hugh SalterAstraZeneca R&D, Södertälje, Sweden.
David MalinowskyAstraZeneca R&D, Södertälje, Sweden.
Patrik WollbergAstraZeneca R&D, Södertälje, Sweden.
Johannes KruppAstraZeneca R&D, Södertälje, Sweden.
Inge Petter KleggetveitSection of Clinical Neurophysiology, Department of Neurology, Oslo University Hospital -Rikshospitalet, Oslo, Norway.
Martin SchmelzDepartment of Anesthesiology Mannheim, Heidelberg University, Mannheim, Germany.
Ellen JørumSection of Clinical Neurophysiology, Department of Neurology, Oslo University Hospital -Rikshospitalet, Oslo, Norway.
Angelika LampertInstitute of Physiology and Pathophysiology, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.ORCID http://orcid.org/0000-0001-6319-6272
Barbara NamerInstitute of Physiology and Pathophysiology, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
AstraZeneca (Sweden) · SEOslo University Hospital · NOFriedrich-Alexander-Universität Erlangen-Nürnberg · DEUniversitätsklinikum Aachen · DEUniversity of Mannheim · DEAstraZeneca (United Kingdom) · GBUppsala University · SE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Gain-of-function mutations in the tetrodotoxin (TTX) sensitive voltage-gated sodium channel (Nav) Nav1.7 have been identified as a key mechanism underlying chronic pain in inherited erythromelalgia. Mutations in TTX resistant channels, such as Nav1.8 or Nav1.9, were recently connected with inherited chronic pain syndromes. Here, we investigated the effects of the p.M650K mutation in Nav1.8 in a 53 year old patient with erythromelalgia by microneurography and patch-clamp techniques. Recordings of the patient's peripheral nerve fibers showed increased activity dependent slowing (ADS) in CMi and less spontaneous firing compared to a control group of erythromelalgia patients without Nav mutations. To evaluate the impact of the p.M650K mutation on neuronal firing and channel gating, we performed current and voltage-clamp recordings on transfected sensory neurons (DRGs) and neuroblastoma cells. The p.M650K mutation shifted steady-state fast inactivation of Nav1.8 to more hyperpolarized potentials and did not significantly alter any other tested gating behaviors. The AP half-width was significantly broader and the stimulated action potential firing rate was reduced for M650K transfected DRGs compared to WT. We discuss the potential link between enhanced steady state fast inactivation, broader action potential width and the potential physiological consequences.

Indexed as

Action PotentialsElectric StimulationErythromelalgiaGanglia, SpinalHumansMaleMiddle AgedMutationNAV1.8 Voltage-Gated Sodium ChannelNerve Fibers, UnmyelinatedPainPatch-Clamp TechniquesSensory Receptor CellsTetrodotoxinNAV1.8 Voltage-Gated Sodium ChannelSCN10A protein, humanTetrodotoxin

Identifiers

PMID27598514
PMCPMC5012686
OpenAlexW2515255079

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

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.