Evidence map›Paper›PMID 38685976›Full record

ArticleNeurology. Genetics2024

Chetan Immanneni, Daniel Calame, Song Jiao, Lisa T Emrick, Miguel Holmgren, Sho T Yano

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology. Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Clinical and Genetic Spectrum ofNeurology. Genetics · 2026
    Article
  2. Article
  3. bioRxiv : the preprint server for biology · 2026
    Article
  4. 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.

Chetan ImmanneniFrom the Sam Houston State University College of Osteopathic Medicine (C.I.), Conroe, TX; Molecular Neurophysiology Unit (C.I., S.J., M.H.), National Institute of Neurological Diseases and Stroke, National Institutes of Health, Bethesda, MD; Section of Pediatric Neurology and Developmental Neuroscience (D.C.), Department of Pediatrics; Department of Molecular and Human Genetics (D.C., L.T.E.), Baylor College of Medicine; Texas Children's Hospital (D.C.), Houston, TX; National Human Genome Research Institute (S.T.Y.), National Institutes of Health, Bethesda, MD; and Section of Pediatric Neurology (S.T.Y.), Department of Pediatrics, University of Chicago, IL.
Daniel CalameFrom the Sam Houston State University College of Osteopathic Medicine (C.I.), Conroe, TX; Molecular Neurophysiology Unit (C.I., S.J., M.H.), National Institute of Neurological Diseases and Stroke, National Institutes of Health, Bethesda, MD; Section of Pediatric Neurology and Developmental Neuroscience (D.C.), Department of Pediatrics; Department of Molecular and Human Genetics (D.C., L.T.E.), Baylor College of Medicine; Texas Children's Hospital (D.C.), Houston, TX; National Human Genome Research Institute (S.T.Y.), National Institutes of Health, Bethesda, MD; and Section of Pediatric Neurology (S.T.Y.), Department of Pediatrics, University of Chicago, IL.ORCID https://orcid.org/0000-0001-6860-372X
Song JiaoFrom the Sam Houston State University College of Osteopathic Medicine (C.I.), Conroe, TX; Molecular Neurophysiology Unit (C.I., S.J., M.H.), National Institute of Neurological Diseases and Stroke, National Institutes of Health, Bethesda, MD; Section of Pediatric Neurology and Developmental Neuroscience (D.C.), Department of Pediatrics; Department of Molecular and Human Genetics (D.C., L.T.E.), Baylor College of Medicine; Texas Children's Hospital (D.C.), Houston, TX; National Human Genome Research Institute (S.T.Y.), National Institutes of Health, Bethesda, MD; and Section of Pediatric Neurology (S.T.Y.), Department of Pediatrics, University of Chicago, IL.
Lisa T EmrickFrom the Sam Houston State University College of Osteopathic Medicine (C.I.), Conroe, TX; Molecular Neurophysiology Unit (C.I., S.J., M.H.), National Institute of Neurological Diseases and Stroke, National Institutes of Health, Bethesda, MD; Section of Pediatric Neurology and Developmental Neuroscience (D.C.), Department of Pediatrics; Department of Molecular and Human Genetics (D.C., L.T.E.), Baylor College of Medicine; Texas Children's Hospital (D.C.), Houston, TX; National Human Genome Research Institute (S.T.Y.), National Institutes of Health, Bethesda, MD; and Section of Pediatric Neurology (S.T.Y.), Department of Pediatrics, University of Chicago, IL.ORCID https://orcid.org/0000-0002-4844-9056
Miguel HolmgrenFrom the Sam Houston State University College of Osteopathic Medicine (C.I.), Conroe, TX; Molecular Neurophysiology Unit (C.I., S.J., M.H.), National Institute of Neurological Diseases and Stroke, National Institutes of Health, Bethesda, MD; Section of Pediatric Neurology and Developmental Neuroscience (D.C.), Department of Pediatrics; Department of Molecular and Human Genetics (D.C., L.T.E.), Baylor College of Medicine; Texas Children's Hospital (D.C.), Houston, TX; National Human Genome Research Institute (S.T.Y.), National Institutes of Health, Bethesda, MD; and Section of Pediatric Neurology (S.T.Y.), Department of Pediatrics, University of Chicago, IL.
Sho T YanoFrom the Sam Houston State University College of Osteopathic Medicine (C.I.), Conroe, TX; Molecular Neurophysiology Unit (C.I., S.J., M.H.), National Institute of Neurological Diseases and Stroke, National Institutes of Health, Bethesda, MD; Section of Pediatric Neurology and Developmental Neuroscience (D.C.), Department of Pediatrics; Department of Molecular and Human Genetics (D.C., L.T.E.), Baylor College of Medicine; Texas Children's Hospital (D.C.), Houston, TX; National Human Genome Research Institute (S.T.Y.), National Institutes of Health, Bethesda, MD; and Section of Pediatric Neurology (S.T.Y.), Department of Pediatrics, University of Chicago, IL.ORCID https://orcid.org/0000-0002-4177-3064

Funding

ChimeraX -- Next Generation Visualization and Analysis Software for Multiscale ModelingR01GM129325 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI FERRIN, THOMAS E · 2018 to 2025
$5.2M
NIGMS NIH HHS R01 GM129325
6 · The paper itself

Abstract

Background and Objectives: Heterozygous pathogenic variants in Methods: We describe the phenotype of an individual with de novo occurrence of a novel heterozygous Results: The proband is a 7-year-old boy who has had 2 lifetime episodes of paroxysmal weakness, encephalopathy, and ataxia not triggered by fever. He had speech regression and intermittent hand tremors after the second episode but otherwise spontaneously recovered after episodes and is at present developmentally appropriate. The p.V130del variant was identified on clinical trio exome sequencing, which did not reveal any other variants possibly associated with the phenotype. p.V130del eliminated ATP1A3 function in cell survival complementation assay. In Discussion: This individual's phenotype expands the clinical spectrum of

Identifiers

PMID38685976
PMCPMC11057438

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.