Evidence map›Paper›PMID 22355750›Full record

ArticleScientific reports2012

Functional analysis of missense variants in the TRESK (KCNK18) K channel.

Isabelle Andres-Enguix, Lijun Shang, Phillip J Stansfeld, Julia M Morahan, Mark S P Sansom, Ronald G Lafrenière, Bishakha Roy, Lyn R Griffiths, Guy A Rouleau, George C Ebers and 2 more

Open access · goldAbstract read
In one paragraph

Article in Scientific reports, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
48citing papers in PubMed, 1 pooled it
0.4field-weighted citation impact, top 39% 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

48 citing papers in PubMed, 1 synthesis or guideline pooled it, 4 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Review
  4. Review
  5. KCNG4 Genetic Variant Linked to Migraine Prevents Expression of KCNB1.International journal of molecular sciences · 2024
    Article
  6. Article
  7. Genetics of migraine: where are we now?The journal of headache and pain · 2023
    Review
  8. Article
  9. Article
  10. KCell research · 2022
    Article
  11. Article
  12. International journal of molecular sciences · 2021
    Article
  13. Article
  14. Comparison of KHandbook of experimental pharmacology · 2021
    Article
  15. Exploring the Hereditary Nature of Migraine.Neuropsychiatric disease and treatment · 2021
    Review
  16. Article
  17. The Background KInternational journal of molecular sciences · 2020
    Review
  18. Altered functional properties of a missense variant in the TRESK KPflugers Archiv : European journal of physiology · 2020
    Article
  19. Genetics of migraine aura: an update.The journal of headache and pain · 2020
    Review
  20. Analysis of Genetic Variants inCurrent genomics · 2020
    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

12 authors at 5 institutions in 4 countries.

Isabelle Andres-Enguix
Lijun Shang
Phillip J Stansfeld
Julia M Morahan
Mark S P Sansom
Ronald G Lafrenière
Bishakha Roy
Lyn R Griffiths
Guy A Rouleau
George C Ebers
Zameel M Cader
Stephen J Tucker
University of Oxford · GBClarendon College · USGriffith University · AUUniversité de Montréal · CAGenomics (United Kingdom) · GB

Funding

Biotechnology and Biological Sciences Research Council B19456Biotechnology and Biological Sciences Research Council BB/H000267/1Biotechnology and Biological Sciences Research Council BB/I019855/1Biotechnology and Biological Sciences Research Council BBS/B/16011Biotechnology and Biological Sciences Research Council BEP17032Wellcome Trust 084655
6 · The paper itself

Abstract

A loss of function mutation in the TRESK K2P potassium channel (KCNK18), has recently been linked with typical familial migraine with aura. We now report the functional characterisation of additional TRESK channel missense variants identified in unrelated patients. Several variants either had no apparent functional effect, or they caused a reduction in channel activity. However, the C110R variant was found to cause a complete loss of TRESK function, yet is present in both sporadic migraine and control cohorts, and no variation in KCNK18 copy number was found. Thus despite the previously identified association between loss of TRESK channel activity and migraine in a large multigenerational pedigree, this finding indicates that a single non-functional TRESK variant is not alone sufficient to cause typical migraine and highlights the genetic complexity of this disorder.

Identifiers

PMID22355750
PMCPMC3266952
OpenAlexW1881181132

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-SA
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.