Evidence map›Paper›PMID 39202391›Full record

ArticleGenes2024

A Novel Pathogenic

Akzam Saidin, Anet Papazovska Cherepnalkovski, Zeeshan Shaukat, Todor Arsov, Rashid Hussain, Ben J Roberts, Marija Bucat, Klara Cogelja, Michael G Ricos, Leanne M Dibbens

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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.

Akzam SaidinEpilepsy Research Group, Clinical and Health Sciences, Australian Centre for Precision Health, University of South Australia, Adelaide, SA 5000, Australia.ORCID 0000-0002-4498-1977
Anet Papazovska CherepnalkovskiDepartment of Neonatology, Clinic for Gynecology and Obstetrics, Clinical Hospital Center Split, 21000 Split, Croatia.ORCID 0000-0002-3753-0502
Zeeshan ShaukatEpilepsy Research Group, Clinical and Health Sciences, Australian Centre for Precision Health, University of South Australia, Adelaide, SA 5000, Australia.ORCID 0000-0002-4507-7752
Todor ArsovFaculty of Medical Sciences, University Goce Delcev in Shtip, 2000 Shtip, North Macedonia.
Rashid HussainEpilepsy Research Group, Clinical and Health Sciences, Australian Centre for Precision Health, University of South Australia, Adelaide, SA 5000, Australia.
Ben J RobertsClinical and Health Sciences, Health and Biomedical Innovation, University of South Australia, Adelaide, SA 5000, Australia.
Marija BucatDepartment of Neonatology, Clinic for Gynecology and Obstetrics, Clinical Hospital Center Split, 21000 Split, Croatia.
Klara CogeljaDepartment of Neonatology, Clinic for Gynecology and Obstetrics, Clinical Hospital Center Split, 21000 Split, Croatia.
Michael G RicosEpilepsy Research Group, Clinical and Health Sciences, Australian Centre for Precision Health, University of South Australia, Adelaide, SA 5000, Australia.ORCID 0000-0002-1860-4692
Leanne M DibbensEpilepsy Research Group, Clinical and Health Sciences, Australian Centre for Precision Health, University of South Australia, Adelaide, SA 5000, Australia.

Funding

University of South Australia Institutional Support Funds
6 · The paper itself

Abstract

Tubulinopathies are associated with malformations of cortical development but not Walker-Warburg Syndrome. Intensive monitoring of a Croatian infant presenting as Walker-Warburg Syndrome in utero began at 21 weeks due to increased growth of cerebral ventricles and foetal biparietal diameter. Monitoring continued until Caesarean delivery at 34 weeks where the infant was eutrophic. Clinical assessment of a progressive neurological disorder of unknown aetiology found a macrocephalic head and markedly hypoplastic genitalia with a micropenis. Neurological examination showed generalized hypotonia with very rare spontaneous movements, hypotonia-induced respiratory insufficiency and ventilator dependence, and generalized myoclonus intensifying during manipulation. With clinical features of hypotonia, lissencephaly, and brain malformations, Walker-Warburg Syndrome was suspected; however, eye anomalies were absent. Genetic trio analysis via whole-exome sequencing only identified a novel de novo mutation in the

Indexed as

TubulinWalker-Warburg SyndromeCroatiaExome SequencingFatal OutcomeFemaleHumansInfantInfant, NewbornMaleMutationTUBA1A protein, humanTubulingeneralized myoclonushypoplastic genitaliahypotonialissencephalymacrocephalyTUBA1Atubulinopathy

Identifiers

PMID39202391
PMCPMC11353499

What OpenQuestion holds

Textmetadata
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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.