Evidence map›Paper›PMID 37628618›Full record

ArticleGenes2023

Aicardi Syndrome Is a Genetically Heterogeneous Disorder.

Thuong T Ha, Rosemary Burgess, Morgan Newman, Ching Moey, Simone A Mandelstam, Alison E Gardner, Atma M Ivancevic, Duyen Pham, Raman Kumar, Nicholas Smith and 12 more

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

Article in Genes, 2023. 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
5.2field-weighted citation impact, top 5% 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

4 citing papers in PubMed, 9 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Women With Genetic Epilepsies.Neurology. Genetics · 2025
    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

22 authors at 10 institutions in 2 countries.

Thuong T HaSchool of Biological Sciences, Faculty of Science, University of Adelaide, Adelaide, SA 5005, Australia.
Rosemary BurgessEpilepsy Research Centre, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia.
Morgan NewmanAlzheimer's Disease Genetics Laboratory, School of Biological Sciences, Faculty of Science, University of Adelaide, Adelaide, SA 5005, Australia.
Ching MoeyThe Queensland Brain Institute, The School of Biomedical Sciences, Faculty of Medicine, The University of Queensland, Brisbane, QLD 4000, Australia.
Simone A MandelstamDepartment of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, VIC 3052, Australia.ORCID 0000-0001-6287-0819
Alison E GardnerAdelaide Medical School and Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5005, Australia.
Atma M IvancevicDepartment of Molecular, Cellular, and Developmental Biology, College of Arts and Sciences, University of Colorado, Boulder, CO 80309, USA.ORCID 0000-0002-0101-9876
Duyen PhamAdelaide Medical School and Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5005, Australia.
Raman KumarAdelaide Medical School and Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5005, Australia.ORCID 0000-0001-7976-8386
Nicholas SmithAdelaide Medical School and Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5005, Australia.
Chirag PatelGenetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, QLD 4029, Australia.
Stephen MaloneQueensland Children's Hospital, South Brisbane, QLD 4101, Australia.
Monique M RyanDepartment of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, VIC 3052, Australia.
Sophie CalvertDepartment of Neurosciences, Queensland Children's Hospital, South Brisbane, QLD 4101, Australia.
Clare L van EykAdelaide Medical School and Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5005, Australia.ORCID 0000-0003-0345-9944
Michael LardelliAlzheimer's Disease Genetics Laboratory, School of Biological Sciences, Faculty of Science, University of Adelaide, Adelaide, SA 5005, Australia.ORCID 0000-0002-4289-444X
Samuel F BerkovicEpilepsy Research Centre, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia.ORCID 0000-0003-4580-841X
Richard J LeventerDepartment of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, VIC 3052, Australia.
Linda J RichardsThe Queensland Brain Institute, The School of Biomedical Sciences, Faculty of Medicine, The University of Queensland, Brisbane, QLD 4000, Australia.
Ingrid E SchefferEpilepsy Research Centre, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia.
Jozef GeczSchool of Biological Sciences, Faculty of Science, University of Adelaide, Adelaide, SA 5005, Australia.ORCID 0000-0002-7884-6861
Mark A CorbettAdelaide Medical School and Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5005, Australia.ORCID 0000-0001-9298-3072
The University of Adelaide · AURoyal Children's Hospital · AUChildren's Health Queensland Hospital and Health Service · AUThe University of Melbourne · AUThe University of Queensland · AURoyal Brisbane and Women's Hospital · AUSouth Australian Health and Medical Research Institute · AUSouth Australia Pathology · AUUniversity of Colorado Boulder · USWomen's and Children's Hospital · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Aicardi Syndrome (AIC) is a rare neurodevelopmental disorder recognized by the classical triad of agenesis of the corpus callosum, chorioretinal lacunae and infantile epileptic spasms syndrome. The diagnostic criteria of AIC were revised in 2005 to include additional phenotypes that are frequently observed in this patient group. AIC has been traditionally considered as X-linked and male lethal because it almost exclusively affects females. Despite numerous genetic and genomic investigations on AIC, a unifying X-linked cause has not been identified. Here, we performed exome and genome sequencing of 10 females with AIC or suspected AIC based on current criteria. We identified a unique de novo variant, each in different genes:

Indexed as

Aicardi SyndromeAnimalsBiological AssayChromosome MappingFemaleGenes, X-LinkedMaleMiceZebrafishdevelopmental epileptic encephalopathyDNA repairDNA sequencingsex biaswnt signallingX-linked

Identifiers

PMID37628618
PMCPMC10454071
OpenAlexW4385416352

What Socratic 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 Socratic graph.