Evidence map›Paper›PMID 36262748›Full record

ArticleMolecular genetics and metabolism reports2022

Incidence of Aicardi-Goutières syndrome and

Rikke S Møller, Liwei Zhao, Jessica R Shoaff, Morten Duno, Brian Nauheimer Andersen, Viet Nguyen, Terry C Fang, Varant Kupelian, Robyn Thorén

Abstract read
In one paragraph

Article in Molecular genetics and metabolism reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. TheNeurology. Genetics · 2026
    Article
  2. Article
  3. Article
  4. 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

9 authors.

Rikke S MøllerDepartment of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.
Liwei ZhaoGlobal Database Studies, IQVIA, Mölndal, Sweden.
Jessica R ShoaffBiogen Inc, Cambridge, MA, USA.
Morten DunoDepartment of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
Brian Nauheimer AndersenDepartment of Pediatric and Adolescent Medicine, Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark.
Viet NguyenBiogen Inc, Cambridge, MA, USA.
Terry C FangBiogen Inc, Cambridge, MA, USA.
Varant KupelianBiogen Inc, Cambridge, MA, USA.
Robyn ThorénGlobal Database Studies, IQVIA, Solna, Sweden.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objective: To estimate the incidence of Aicardi-Goutières syndrome (AGS) and potassium sodium-activated channel subfamily T member 1 ( Background: AGS and Materials and methods: This is a retrospective, non-interventional, population-based study using aggregate data from the Danish population register and hospital-based patient-level data in Denmark to identify persons with genetically confirmed AGS between January 2010 to December 2020 and Results: A total of 7 AGS patients were identified. The mean age at AGS diagnosis was 19.4 months (median age 14 months). Conclusions: AGS and

Indexed as

AGS, Aicardi-Goutières syndromeAicardi-Goutières syndromeDenmarkIncidenceKCNT1, Potassium sodium-activated channel subfamily T member 1KCNT1-related epilepsyRare diseases

Identifiers

PMID36262748
PMCPMC9574483

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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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.