Evidence map›Paper›PMID 38400608›Full record

ReviewMolecular genetics & genomic medicine2024

Type 1 early infantile epileptic encephalopathy: A case report and literature review.

Erfan Zaker, Negar Nouri, Mojtaba Movahedinia, Ali Dadbinpour, Mohammad Yahya Vahidi Mehrjardi

Open access · goldAbstract readReviewCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Review in Molecular genetics & genomic medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.4field-weighted citation impact, top 42% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. 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

5 authors at 1 institution in 1 country.

Erfan ZakerDepartment of Medical Genetics, Faculty of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.ORCID https://orcid.org/0000-0002-3823-0798
Negar NouriDepartment of Medical Genetics, Faculty of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Mojtaba MovahediniaDepartment of Children Growth Disorder Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.ORCID https://orcid.org/0000-0002-3062-8267
Ali DadbinpourDepartment of Medical Genetics, School of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.ORCID https://orcid.org/0000-0003-3627-9472
Mohammad Yahya Vahidi MehrjardiDiabetes Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.ORCID https://orcid.org/0000-0003-0535-1590
Shahid Sadoughi University of Medical Sciences and Health Services · IR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundVariants in the Aristaless-related homeobox (ARX) gene lead to a variety of phenotypes, with intellectual disability being a steady feature. Other features can include severe epilepsy, spasticity, movement disorders, hydranencephaly, and ambiguous genitalia in males. X-linked Ohtahara syndrome or Type 1 early infantile epileptic encephalopathy (EIEE1) is a severe early-onset epileptic encephalopathy with arrested psychomotor development caused by hemizygous mutations in the ARX gene, which encodes a transcription factor in fundamental brain developmental processes.

methodsWe presented a case report of a 2-year-old boy who exhibited symptoms such as microcephaly, seizures, and severe multifocal epileptic abnormalities, and genetic techniques such as autozygosity mapping, Sanger sequencing, and whole-exome sequencing.

resultsWe confirmed that the patient had the NM_139058.3:c.84C>A; p.(Cys28Ter) mutation in the ARX gene.

conclusionThe patient with EIEE1 had physical symptoms and hypsarrhythmia on electroencephalogram. Genetic testing identified a causative mutation in the ARX gene, emphasizing the role of genetic testing in EIEE diagnosis.

Indexed as

EpilepsySpasms, InfantileChild, PreschoolHomeodomain ProteinsHumansMaleTranscription FactorsHomeodomain ProteinsTranscription FactorsAristaless-related homeoboxARXearly infantile epileptic encephalopathyEIEE1Ohtahara syndrome

Identifiers

PMID38400608
PMCPMC10891437
OpenAlexW4392133556

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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.