Evidence map›Paper›PMID 32489883›Full record

ArticleMolecular genetics and metabolism reports2020

Molecular genetic and mitochondrial metabolic analyses confirm the suspected mitochondrial etiology in a pediatric patient with an atypical form of alternating hemiplegia of childhood.

Andrea Gropman, Martine Uittenbogaard, Christine A Brantner, Yue Wang, Lee-Jun Wong, Anne Chiaramello

Open access · goldAbstract read
In one paragraph

Article in Molecular genetics and metabolism reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.6field-weighted citation impact, top 35% 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

8 citing papers in PubMed, 10 citations in OpenAlex.

  1. Article
  2. Article
  3. Challenges and opportunities to bridge translational to clinical research for personalized mitochondrial medicine.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2024
    Review
  4. Article
  5. Article
  6. Novel presentations associated with a PDHA1 variant - Alternating hemiplegia in Hemizygote proband and Guillain Barre Syndrome in Heterozygote mother.European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society · 2021
    Article
  7. Article
  8. Auditory Neuropathy as the Initial Phenotype for Patients WithFrontiers in cell and developmental biology · 2021
    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 3 institutions in 1 country.

Andrea GropmanChildren's National Medical Center, Division of Neurogenetics and Developmental Pediatrics, Washington, DC 20010, USA.
Martine UittenbogaardDepartment of Anatomy and Regenerative Biology, George Washington University School of Medicine and Health Sciences, Washington, DC 20037, USA.
Christine A BrantnerGW Nanofabrication and Imaging Center, Office of the Vice-President for Research, George Washington University, Washington, DC 20052, USA.
Yue WangDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Lee-Jun WongDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Anne ChiaramelloDepartment of Anatomy and Regenerative Biology, George Washington University School of Medicine and Health Sciences, Washington, DC 20037, USA.
George Washington University · USBaylor College of Medicine · USChildren's National · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Alternative hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder with an extensive phenotypic variability, resulting in a challenging clinical diagnosis. About 75% of AHC cases are caused by pathogenic variants mapping in the

Indexed as

Deep sequencing of mitochondrial genomeGenotype-phenotype correlationMitochondrial bioenergetic capacityOligogenic inheritanceWhole exome sequencing

Identifiers

PMID32489883
PMCPMC7262444
OpenAlexW3031692885

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.