Evidence map›Paper›PMID 34320850›Full record

ArticleJournal of neurophysiology2021

A novel gain-of-function sodium channel β2 subunit mutation in idiopathic small fiber neuropathy.

Matthew Alsaloum, Julie I R Labau, Daniel Sosniak, Peng Zhao, Rowida Almomani, Monique Gerrits, Janneke G J Hoeijmakers, Giuseppe Lauria, Catharina G Faber, Stephen G Waxman and 1 more

Open access · hybridAbstract read
In one paragraph

Article in Journal of neurophysiology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed, 1 pooled it
0.8field-weighted citation impact, top 29% 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

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

  1. Small Fiber Neuropathy in Burning Mouth Syndrome: A Systematic Review.International journal of molecular sciences · 2024
    Pooled it
  2. Review
  3. Review
  4. Genetic Analysis ofInternational journal of molecular sciences · 2024
    Article
  5. Trigeminal neuralgia.Nature reviews. Disease primers · 2024
    Review
  6. Advances in diagnosis and management of distal sensory polyneuropathies.Journal of neurology, neurosurgery, and psychiatry · 2023
    Review
  7. Article
  8. iPSCs and DRGs: stepping stones to new pain therapies.Trends in molecular medicine · 2022
    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

11 authors at 4 institutions in 4 countries.

Matthew AlsaloumDepartment of Neurology, Yale University School of Medicine, New Haven, Connecticut.ORCID 0000-0002-9832-0138
Julie I R LabauDepartment of Neurology, Yale University School of Medicine, New Haven, Connecticut.
Daniel SosniakDepartment of Neurology, Yale University School of Medicine, New Haven, Connecticut.
Peng ZhaoDepartment of Neurology, Yale University School of Medicine, New Haven, Connecticut.
Rowida AlmomaniDepartment of Genetics and Cell Biology, Clinical Genomics Unit, Maastricht University, Maastricht, The Netherlands.
Monique GerritsDepartment of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.ORCID 0000-0002-9503-9404
Janneke G J HoeijmakersDepartment of Neurology, Maastricht University Medical Centre, Maastricht, The Netherlands.
Giuseppe LauriaNeuroalgology Unit, IRCCS Foundation "Carlo Besta" Neurological Institute, Milan, Italy.ORCID 0000-0001-9773-020X
Catharina G FaberDepartment of Neurology, Maastricht University Medical Centre, Maastricht, The Netherlands.ORCID 0000-0002-2467-067X
Stephen G WaxmanDepartment of Neurology, Yale University School of Medicine, New Haven, Connecticut.
Sulayman Dib-HajjDepartment of Neurology, Yale University School of Medicine, New Haven, Connecticut.ORCID 0000-0002-4137-1655
Yale University · USMaastricht University Medical Centre · NLJordan University of Science and Technology · JOUniversity of Milan · IT

Funding

Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9M
MEDICAL SCIENTIST TRAINING PROGRAMT32GM007205 · NIGMS · YALE UNIVERSITY · PI KAZMIERCZAK, BARBARA I · 1985 to 2019
$42.9M
NCATS NIH HHS UL1 TR001863NIGMS NIH HHS T32 GM007205
6 · The paper itself

Abstract

Small fiber neuropathy (SFN) is a common condition affecting thinly myelinated Aδ and unmyelinated C fibers, often resulting in excruciating pain and dysautonomia. SFN has been associated with several conditions, but a significant number of cases have no discernible cause. Recent genetic studies have identified potentially pathogenic gain-of-function mutations in several pore-forming voltage-gated sodium channel α subunits (Na

Indexed as

Gain of Function MutationAction PotentialsAnimalsCells, CulturedGanglia, SpinalHEK293 CellsHumansMutation, MissenseNeuronsRatsRats, Sprague-DawleySmall Fiber NeuropathyVoltage-Gated Sodium Channel beta-2 SubunitVoltage-Gated Sodium Channel beta-2 Subunitsmall fiber neuropathy (SFN)sodium channel β subunitstetrodotoxin-sensitive voltage-gated sodium channelsvoltage-gated sodium (Nav) channelsβ2 subunit

Identifiers

PMID34320850
PMCPMC8461825
OpenAlexW3186115655

What OpenQuestion holds

Textmetadata
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.