Evidence map›Paper›PMID 36786913›Full record

ArticleMolecular neurobiology2023

Whole Exome Sequencing of Hemiplegic Migraine Patients Shows an Increased Burden of Missense Variants in CACNA1H and CACNA1I Genes.

Neven Maksemous, Aster V E Harder, Omar Ibrahim, Lisanne S Vijfhuizen, Heidi Sutherland, Nadine Pelzer, Irene de Boer, Gisela M Terwindt, Rodney A Lea, Arn M J M van den Maagdenberg and 1 more

Open access · hybridAbstract read
In one paragraph

Article in Molecular neurobiology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
3.1field-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

10 citing papers in PubMed, 14 citations in OpenAlex.

  1. Hemiplegic migraine: genetics and pathophysiology.The Journal of clinical investigation · 2026
    Review
  2. Article
  3. Article
  4. Article
  5. Article
  6. Review
  7. Calcium Ions in the Physiology and Pathology of the Central Nervous System.International journal of molecular sciences · 2024
    Review
  8. A Review of theDiseases (Basel, Switzerland) · 2024
    Review
  9. Article
  10. 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 2 countries.

Neven Maksemous *Genomics Research Centre, Centre for Genomics and Personalised Health, School of Biomedical Sciences, Queensland University of Technology, 60 Musk Ave, Brisbane, QLD, 4059, Australia.
Aster V E Harder *Department of Human Genetics, Leiden University Medical Centre, Leiden, the Netherlands.
Omar Ibrahim *Genomics Research Centre, Centre for Genomics and Personalised Health, School of Biomedical Sciences, Queensland University of Technology, 60 Musk Ave, Brisbane, QLD, 4059, Australia.
Lisanne S VijfhuizenDepartment of Human Genetics, Leiden University Medical Centre, Leiden, the Netherlands.
Heidi SutherlandGenomics Research Centre, Centre for Genomics and Personalised Health, School of Biomedical Sciences, Queensland University of Technology, 60 Musk Ave, Brisbane, QLD, 4059, Australia.
Nadine PelzerDepartment of Neurology, Leiden University Medical Centre, Leiden, the Netherlands.
Irene de BoerDepartment of Neurology, Leiden University Medical Centre, Leiden, the Netherlands.
Gisela M TerwindtDepartment of Neurology, Leiden University Medical Centre, Leiden, the Netherlands.
Rodney A LeaGenomics Research Centre, Centre for Genomics and Personalised Health, School of Biomedical Sciences, Queensland University of Technology, 60 Musk Ave, Brisbane, QLD, 4059, Australia.
Arn M J M van den MaagdenbergDepartment of Human Genetics, Leiden University Medical Centre, Leiden, the Netherlands. A.M.J.M.van_den_Maagdenberg@lumc.nl.
Lyn R GriffithsGenomics Research Centre, Centre for Genomics and Personalised Health, School of Biomedical Sciences, Queensland University of Technology, 60 Musk Ave, Brisbane, QLD, 4059, Australia. lyn.griffiths@qut.edu.au.ORCID http://orcid.org/0000-0002-6774-5475
Queensland University of Technology · AULeiden University · NLLeiden University Medical Center · NLGriffith University · AU

Funding

National Health and Medical Research Council APP1122387The Centre of Medical System Biology (CMSB) in the framework of the Netherlands Genomics Initiative (NGI) 050-060-409The European Community (EC) FP7-EUROHEADPAIN 602633
6 · The paper itself

Abstract

Hemiplegic migraine (HM) is a rare subtype of migraine with aura. Given that causal missense mutations in the voltage-gated calcium channel α1A subunit gene CACNA1A have been identified in a subset of HM patients, we investigated whether HM patients without a mutation have an increased burden of such variants in the "CACNA1x gene family". Whole exome sequencing data of an Australian cohort of unrelated HM patients (n = 184), along with public data from gnomAD, as controls, was used to assess the burden of missense variants in CACNA1x genes. We performed both a variant and a subject burden test. We found a significant burden for the number of variants in CACNA1E (p = 1.3 × 10

Indexed as

Calcium Channels, T-TypeMigraine DisordersMigraine with AuraAustraliaExome SequencingHemiplegiaHumansMutation, MissenseCACNA1H protein, humanCACNA1I protein, humanCalcium Channels, T-TypeBurden-testingCACNA1xHeadacheHemiplegic migraine

Identifiers

PMID36786913
PMCPMC10122627
OpenAlexW4320709816

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.