Evidence map›Paper›PMID 39336810›Full record

ReviewGenes2024

Expanding the Spectrum of Autosomal Dominant

Fabio Sirchia, Ivan Taietti, Myriam Donesana, Francesco Bassanese, Andrea Martina Clemente, Eliana Barbato, Alessandro Orsini, Alessandro Ferretti, Gian Luigi Marseglia, Salvatore Savasta and 1 more

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

Review in Genes, 2024. 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. Article
  2. 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

11 authors.

Fabio SirchiaDepartment of Molecular Medicine, University of Pavia, 27100 Pavia, Italy.ORCID 0000-0002-4598-2023
Ivan TaiettiPediatric Unit, Department of Clinical, Surgical, Diagnostic, and Pediatric Sciences, University of Pavia, 27100 Pavia, Italy.
Myriam DonesanaPediatric Unit, Department of Clinical, Surgical, Diagnostic, and Pediatric Sciences, University of Pavia, 27100 Pavia, Italy.
Francesco BassanesePediatric Unit, Department of Clinical, Surgical, Diagnostic, and Pediatric Sciences, University of Pavia, 27100 Pavia, Italy.
Andrea Martina ClementePediatric Unit, Department of Clinical, Surgical, Diagnostic, and Pediatric Sciences, University of Pavia, 27100 Pavia, Italy.
Eliana BarbatoPediatric Unit, Department of Clinical, Surgical, Diagnostic, and Pediatric Sciences, University of Pavia, 27100 Pavia, Italy.
Alessandro OrsiniPediatric Clinic, Department of Clinical and Experimental Medicine, University of Pisa, 56100 Pisa, Italy.ORCID 0000-0001-5256-6573
Alessandro FerrettiPediatric Sleep Disease Centre, Child Neurology, NESMOS Department, School of Medicine and Psychology, Sapienza University of Rome, S. Andrea Hospital, 00189 Rome, Italy.ORCID 0000-0002-3854-9299
Gian Luigi MarsegliaPediatric Unit, Department of Clinical, Surgical, Diagnostic, and Pediatric Sciences, University of Pavia, 27100 Pavia, Italy.
Salvatore SavastaPediatric Clinic and Rare Diseases, P.O. Pediatrico Microcitemico "A. Cao", Università degli Studi di Cagliari, 09121 Cagliari, Italy.
Thomas FoiadelliPediatric Unit, Department of Clinical, Surgical, Diagnostic, and Pediatric Sciences, University of Pavia, 27100 Pavia, Italy.ORCID 0000-0003-0961-428X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundDevelopmental and epileptic encephalopathies (DEE) are a group of disorders often linked to de novo mutations, including those in the

methodsWe aim to expand

resultsGenetic analysis revealed a novel de novo heterozygous pathogenic variant (c.82G>A, p.Val28Met) in the

conclusionsThis case expands the known clinical spectrum, illustrating that not all patients with

Indexed as

Vacuolar Proton-Translocating ATPasesChildEpilepsyHumansIntellectual DisabilityLanguage Development DisordersMaleMicrocephalyMutationPhenotypeSeizures, FebrileATP6V1A protein, humanVacuolar Proton-Translocating ATPasesATP6V1A mutationintellectual disabilityspeech delay

Identifiers

PMID39336810
PMCPMC11431710

What OpenQuestion holds

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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.