Evidence map›Paper›PMID 39725401›Full record

ArticleZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics2024

[Autosomal dominant intellectual developmental disorder 60 with seizures: a case report].

Ying-Ying Sun, Hui Liu, Miao Liu, Shi-Yue Mei, Yan-Li Ma

Abstract readCase ReportsEnglish Abstract
PubMed Full text at PMC Publisher
In one paragraph

Article in Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Ying-Ying SunDepartment of Neurology, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou 450000, China.
Hui LiuDepartment of Neurology, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou 450000, China.
Miao LiuDepartment of Neurology, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou 450000, China.
Shi-Yue Mei
Yan-Li MaDepartment of Neurology, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou 450000, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The patient is a 10-month and 21-day-old girl who began to show developmental delays at 3 months of age, with severe language developmental disorders, stereotyped movements, and easily provoked laughter. Physical examination revealed fair skin and a flattened occiput. At 10 months of age, a video electroencephalogram suggested atypical absence seizures, with migrating slow-wave activity observed during the interictal period. Whole exome sequencing of three family members indicated a novel mutation in the

Indexed as

MutationSeizuresDevelopmental DisabilitiesElectroencephalographyFemaleHumansInfantIntellectual DisabilityAngelman syndromeAP2M1 geneAutosomal dominant intellectual developmental disorder 60 with seizuresChild

Identifiers

PMID39725401
PMCPMC11684838

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.