Evidence map›Paper›PMID 36654732›Full record

ArticleEpilepsy & behavior reports2023

GNAO1-related neurodevelopmental disorder: Literature review and caregiver survey.

Qian-Zhou JoJo Yang, Brenda E Porter, Erika T Axeen

Open access · goldAbstract readCase Reports
In one paragraph

Article in Epilepsy & behavior reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.7field-weighted citation impact, top 14% 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

6 citing papers in PubMed, 9 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Gln52 mutations inEpilepsy & behavior reports · 2023
    Article
  6. 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

3 authors at 3 institutions in 1 country.

Qian-Zhou JoJo YangDivision of Child Neurology, Department of Neurology, University of North Carolina, Chapel Hill, NC, United States.
Brenda E PorterDivision of Child Neurology, Department of Neurology, Stanford University, Palo Alto, CA, United States.
Erika T AxeenDivision of Pediatric Neurology, Department of Neurology, University of Virginia, United States.
Stanford University · USUniversity of North Carolina at Chapel Hill · USUniversity of Virginia · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Methods: An online survey was distributed to caregivers of individuals diagnosed with Results: Fifteen respondents completed the survey with the median age of 39 months, including a novel variant p.Q52P. Nine had epilepsy - six had onset in the first week of life, three in the first year of life - but two reported no ongoing seizures. Seizure types varied. Individuals were taking a median of 3 seizure medications without a single best treatment. Our cohort was compared to a literature review of epilepsy in Conclusions: While

Indexed as

ASM, antiseizure medicationscAMP, cyclic adenosine monophosphateDEE, developmental and epileptic encephalopathyDevelopmental and epileptic encephalopathyEEG, electroencephalogramEpilepsyGeneticGNAO1GNAO1, G protein subunit alpha o1GPCR, G protein coupled receptorMovement disorderMRI, magnetic resonance imagingNeurodevelopmental disorder

Identifiers

PMID36654732
PMCPMC9841045
OpenAlexW4313399269

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.