Evidence map›Paper›PMID 20871611›Full record

ArticleNature medicine2010

A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura.

Ronald G Lafrenière, M Zameel Cader, Jean-François Poulin, Isabelle Andres-Enguix, Maryse Simoneau, Namrata Gupta, Karine Boisvert, François Lafrenière, Shannon McLaughlan, Marie-Pierre Dubé and 10 more

Abstract read
PubMed Publisher
In one paragraph

Article in Nature medicine, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 154 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
154citing papers in PubMed, 1 pooled it
0.9field-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

154 citing papers in PubMed, 1 synthesis or guideline pooled it, 19 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Review
  4. Review
  5. A Forward Genetic Screen inbioRxiv : the preprint server for biology · 2026
    Article
  6. Review
  7. Review
  8. Article
  9. Review
  10. Review
  11. Hallmarks of primary headache: part 1 - migraine.The journal of headache and pain · 2024
    Review
  12. Article
  13. Article
  14. Review
  15. Article
  16. Review
  17. Review
  18. Genetic Mechanisms of Migraine: Insights from Monogenic Migraine Mutations.International journal of molecular sciences · 2023
    Review
  19. Meningeal Mechanisms and the Migraine Connection.Annual review of neuroscience · 2023
    Review
  20. The Epigenetics of Migraine.International journal of molecular sciences · 2023
    Review

94 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

20 authors at 10 institutions in 5 countries.

Ronald G LafrenièreCentre of Excellence in Neuromics and Department of Medicine, Université de Montréal, Centre Hospitalier de l'Université de Montréal, Research Centre, Notre-Dame Hospital, Montreal, Quebec, Canada.
M Zameel Cader
Jean-François Poulin
Isabelle Andres-Enguix
Maryse Simoneau
Namrata Gupta
Karine Boisvert
François Lafrenière
Shannon McLaughlan
Marie-Pierre Dubé
Martin M Marcinkiewicz
Sreeram Ramagopalan
Olaf Ansorge
Bernard Brais
Jorge Sequeiros
Jose Maria Pereira-Monteiro
Lyn R Griffiths
Stephen J Tucker
George Ebers
Guy A Rouleau
University of Oxford · GBCentre Hospitalier de l’Université de Montréal · CACanadian Hemophilia Society · CACentre for Human Genetics · GBGriffith University · AUHôpital Notre-Dame · CAHospital de Santo António · PTJohn Radcliffe Hospital · GBUniversidade do Porto · PTUniversité de Montréal · CA

Funding

Medical Research Council G0601887Wellcome Trust
6 · The paper itself

Abstract

Migraine with aura is a common, debilitating, recurrent headache disorder associated with transient and reversible focal neurological symptoms. A role has been suggested for the two-pore domain (K2P) potassium channel, TWIK-related spinal cord potassium channel (TRESK, encoded by KCNK18), in pain pathways and general anaesthesia. We therefore examined whether TRESK is involved in migraine by screening the KCNK18 gene in subjects diagnosed with migraine. Here we report a frameshift mutation, F139WfsX24, which segregates perfectly with typical migraine with aura in a large pedigree. We also identified prominent TRESK expression in migraine-salient areas such as the trigeminal ganglion. Functional characterization of this mutation demonstrates that it causes a complete loss of TRESK function and that the mutant subunit suppresses wild-type channel function through a dominant-negative effect, thus explaining the dominant penetrance of this allele. These results therefore support a role for TRESK in the pathogenesis of typical migraine with aura and further support the role of this channel as a potential therapeutic target.

Indexed as

MutationAnimalsGenetic LinkageHumansMiceMigraine with AuraPolymorphism, Single NucleotidePotassium ChannelsKCNK18 protein, humanKcnk18 protein, mousePotassium Channels

Identifiers

PMID20871611
OpenAlexW1603118639

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.