Evidence map›Paper›PMID 29090527›Full record

ReviewAmerican journal of medical genetics. Part A2018

Novel pregnancy-triggered episodes of CAPOS syndrome.

Irene J Chang, Margaret P Adam, Suman Jayadev, Thomas D Bird, Niranjana Natarajan, Ian A Glass

Open access · greenAbstract readCase ReportsReview
PubMed Full text at PMC Publisher
In one paragraph

Review in American journal of medical genetics. Part A, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.0field-weighted citation impact, top 24% 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

5 citing papers in PubMed, 12 citations in OpenAlex.

  1. Molecular and clinical characteristics ofFrontiers in neurology · 2022
    Article
  2. Article
  3. Article
  4. Functional consequences of the CAPOS mutation E818K of NaThe Journal of biological chemistry · 2019
    Article
  5. 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

6 authors at 2 institutions in 1 country.

Irene J ChangDivision of Medical Genetics, Department of Medicine, University of Washington Medical Center, Seattle, Washington.ORCID 0000-0002-5842-5912
Margaret P AdamDivision of Genetic Medicine, Department of Pediatrics, Seattle Children's Hospital and University of Washington, Seattle, Washington.
Suman JayadevDepartment of Neurology, University of Washington Medical Center, Seattle, Washington.
Thomas D BirdDivision of Medical Genetics, Department of Medicine, University of Washington Medical Center, Seattle, Washington.
Niranjana NatarajanDepartment of Neurology, Seattle Children's Hospital and University of Washington, Seattle, Washington.
Ian A GlassDivision of Medical Genetics, Department of Medicine, University of Washington Medical Center, Seattle, Washington.
Seattle Children's Hospital · USUniversity of Washington Medical Center · US

Funding

Medical Genetics Training GrantT32GM007454 · NIGMS · UNIVERSITY OF WASHINGTON · PI Gail Pairitz Jarvik, Andrew Ben Stergachis · 1985 to 2026
$6.9M
NIGMS NIH HHS T32 GM007454
6 · The paper itself

Abstract

Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome (OMIM# 601338) is a rare autosomal dominant disorder characterized by episodic, fever-induced ataxic encephalopathy in childhood with residual symptoms. All identified patients have the same heterozygous missense variant c.2452G>A (p.Glu818Lys) in the ATP1A3 gene, encoding Na

Indexed as

PhenotypePregnancy ComplicationsAllelesCerebellar AtaxiaChild, PreschoolFemaleFoot Deformities, CongenitalGenetic Association StudiesGenotypeHearing Loss, SensorineuralHumansInfantMaleOptic AtrophyPedigreePregnancyATP1A3 protein, humanSodium-Potassium-Exchanging ATPaseATP1A3CAPOS syndromecerebellar ataxiaoptic atrophypregnancysensorineural hearing loss

Identifiers

PMID29090527
PMCPMC5726903
OpenAlexW2767026459

What OpenQuestion holds

Textmetadata
LicenceTDM
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.