Evidence map›Paper›PMID 36430690›Full record

ArticleInternational journal of molecular sciences2022

Whole Exome Sequencing Identifies a Heterozygous Variant in the Cav1.3 Gene

Susanne Rinné, Birgit Stallmeyer, Alexandra Pinggera, Michael F Netter, Lina A Matschke, Sven Dittmann, Uwe Kirchhefer, Ulrich Neudorf, Joachim Opp, Jörg Striessnig and 2 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed, 1 pooled it
1.2field-weighted citation impact, top 22% 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

11 citing papers in PubMed, 1 synthesis or guideline pooled it, 14 citations in OpenAlex.

  1. A Systematic Review on the Role of the Stria Vascularis in Menière's Disease Pathogenesis.Journal of the Association for Research in Otolaryngology : JARO · 2025
    Pooled it
  2. Article
  3. Impact of CaInternational journal of molecular sciences · 2026
    Review
  4. C-Terminus of CaCells · 2026
    Article
  5. Article
  6. Review
  7. Article
  8. Review
  9. Review
  10. Review
  11. Pathophysiology of CaFrontiers in physiology · 2023
    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

12 authors at 5 institutions in 2 countries.

Susanne RinnéInstitute of Physiology and Pathophysiology, Vegetative Physiology, University of Marburg, 35037 Marburg, Germany.ORCID 0000-0003-2326-7069
Birgit StallmeyerInstitute for Genetics of Heart Diseases (IfGH), University Hospital Muenster, 48149 Muenster, Germany.
Alexandra PinggeraDepartment of Pharmacology and Toxicology, Center for Molecular Biosciences, University of Innsbruck, 6020 Innsbruck, Austria.
Michael F NetterInstitute of Physiology and Pathophysiology, Vegetative Physiology, University of Marburg, 35037 Marburg, Germany.
Lina A MatschkeInstitute of Physiology and Pathophysiology, Vegetative Physiology, University of Marburg, 35037 Marburg, Germany.
Sven DittmannInstitute for Genetics of Heart Diseases (IfGH), University Hospital Muenster, 48149 Muenster, Germany.ORCID 0000-0001-5829-3676
Uwe KirchheferInstitute of Pharmacology and Toxicology, University Hospital Muenster, 48149 Muenster, Germany.
Ulrich NeudorfZentrum für Kinder-und Jugendmedizin, Klinik für Kinderheilkunde III-Bereich Kardiologie, University Hospital Essen, 45147 Essen, Germany.
Joachim OppEv. Krankenhaus Oberhausen, 46047 Oberhausen, Germany.ORCID 0000-0003-0558-217X
Jörg StriessnigDepartment of Pharmacology and Toxicology, Center for Molecular Biosciences, University of Innsbruck, 6020 Innsbruck, Austria.ORCID 0000-0002-9406-7120
Niels DecherInstitute of Physiology and Pathophysiology, Vegetative Physiology, University of Marburg, 35037 Marburg, Germany.ORCID 0000-0002-9433-687X
Eric Schulze-BahrInstitute for Genetics of Heart Diseases (IfGH), University Hospital Muenster, 48149 Muenster, Germany.ORCID 0000-0001-6884-2501
Philipps University of Marburg · DEUniversität Innsbruck · ATEvangelisches Krankenhaus Oberhausen · DEUniversity Hospital Münster · DEZentrum für Kinderheilkunde · DE

Funding

Austrian Science Fund FWF P 35722Deutsche Forschungsgemeinschaft DE1482/9-1Fondation Leducq FIGHTING AGAINST SINUS NODE DYSFUNCTION AND ASSOCIATED ARRHYTHMIAS - The FANTASY NetworkFWF Austrian Science Fund FWF, P-27809University of Münster ST121119
6 · The paper itself

Abstract

Cav1.3 voltage-gated L-type calcium channels (LTCCs) are involved in cardiac pacemaking, hearing and hormone secretion, but are also expressed postsynaptically in neurons. So far, homozygous loss of function mutations in

Indexed as

Calcium Channels, L-TypeEpilepsySick Sinus SyndromeExome SequencingHumansProtein IsoformsCACNA1D protein, humanCalcium Channels, L-TypeProtein Isoformscalcium channelCav1.3focal idiopathic epilepsysinoatrial node dysfunction

Identifiers

PMID36430690
PMCPMC9693521
OpenAlexW4309171891

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.