Evidence map›Paper›PMID 39773217›Full record

ArticleBMC medicine2025

Dystonia caused by ANO3 variants is due to attenuated Ca

Jiraporn Ousingsawat, Khaoula Talbi, Hilario Gómez-Martín, Anne Koy, Alberto Fernández-Jaén, Hasan Tekgül, Esra Serdaroğlu, Juan Darío Ortigoza-Escobar, Rainer Schreiber, Karl Kunzelmann

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Article in BMC medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
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

2 citing papers in PubMed.

  1. Review
  2. 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

10 authors.

Jiraporn OusingsawatPhysiological Institute, University of Regensburg, University Street 31, 93053, Regensburg, Germany.
Khaoula TalbiPhysiological Institute, University of Regensburg, University Street 31, 93053, Regensburg, Germany.
Hilario Gómez-MartínPediatric Neurology Unit, Department of Pediatrics, Hospital Universitario de Salamanca, 37007 Castillay , Leon, Spain.
Anne KoyCentre for Rare Diseases, Faculty of Medicineand , University Hospital Cologne, University of Cologne, 50931, Cologne, Germany.
Alberto Fernández-JaénDepartment of Pediatric Neurology, Hospital Universitario Quirónsalud, 28223, Pozuelo de Alarcón, Madrid, Spain.
Hasan TekgülDivision of Pediatric Neurology, Ege Children's Hospital, Ege University Medical School, 35100, Bornova, Izmir, Turkey.
Esra SerdaroğluDepartment of Pediatric Neurology, Gazi University, Emniyet, Ankara , Yenimahalle, 06560, Turkey.
Juan Darío Ortigoza-EscobarMovement Disorders Unit, Pediatric Neurology Department, Institut de Recerca Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.
Rainer SchreiberPhysiological Institute, University of Regensburg, University Street 31, 93053, Regensburg, Germany.
Karl KunzelmannPhysiological Institute, University of Regensburg, University Street 31, 93053, Regensburg, Germany. karl.kunzelmann@ur.de.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundDystonia is a common neurological hyperkinetic movement disorder that can be caused by mutations in anoctamin 3 (ANO3, TMEM16C), a phospholipid scramblase and ion channel. We previously reported patients that were heterozygous for the ANO3 variants S651N, V561L, A599D and S651N, which cause dystonia by unknown mechanisms.

methodsWe applied electrophysiology, Ca

resultsUpon expression, emptying of the endoplasmic reticulum Ca

conclusionsDysregulated Ca

Indexed as

AnoctaminsCalciumDystoniaORAI1 ProteinHEK293 CellsHumansANO3 protein, humanAnoctaminsCalciumORAI1 ProteinORAI1 protein, humanANO3Anoctamin 3Ca2+ signalingDystoniaK+ channelsTMEM16C

Identifiers

PMID39773217
PMCPMC11707858

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Registered trials

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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.