Evidence map›Paper›PMID 35097086›Full record

ArticleWorld journal of clinical cases2022

Novel compound heterozygous

Wen-Xin Lin, Ying-Ying Chai, Ting-Ting Huang, Xia Zhang, Guo Zheng, Gang Zhang, Fang Peng, Yan-Jun Huang

Open access · diamondAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in World journal of clinical cases, 2022. 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
0.6field-weighted citation impact, top 30% 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, 3 citations in OpenAlex.

  1. 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

8 authors at 1 institution in 1 country.

Wen-Xin LinDepartment of Neurology, Children's Hospital of Nanjing Medical University, Nanjing 210000, Jiangsu Province, China.
Ying-Ying ChaiDepartment of Neurology, Children's Hospital of Nanjing Medical University, Nanjing 210000, Jiangsu Province, China.
Ting-Ting HuangDepartment of Neurology, Children's Hospital of Nanjing Medical University, Nanjing 210000, Jiangsu Province, China.
Xia ZhangDepartment of Neurology, Children's Hospital of Nanjing Medical University, Nanjing 210000, Jiangsu Province, China.
Guo ZhengDepartment of Neurology, Children's Hospital of Nanjing Medical University, Nanjing 210000, Jiangsu Province, China.
Gang ZhangDepartment of Neurology, Children's Hospital of Nanjing Medical University, Nanjing 210000, Jiangsu Province, China.
Fang PengDepartment of Neurology, Huashan Hospital, Fudan University, Shanghai 200040, China.
Yan-Jun HuangDepartment of Neurology, Children's Hospital of Nanjing Medical University, Nanjing 210000, Jiangsu Province, China. njhuang2013@126.com.
Fudan University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundLissencephaly (LIS) is a malformation of cortical development with broad gyri, shallow sulci and thickened cortex characterized by developmental delays and seizures. Currently, 20 genes have been implicated in LIS. However, CASE SUMMARY: A 5-mo-old female infant was hospitalized due to repeated convulsions for 1 d. The patient had a flat head deformity that manifested as developmental delays and a sudden onset of generalized tonic-clonic seizures at 5 mo without any causes. The electroencephalography was normal. Brain magnetic resonance imaging revealed a simple brain structure with widened and thickened gyri and shallow sulci. The white matter of the brain was significantly reduced. Patchy long T1 and T2 signals could be seen around the ventricles, which were expanded, and the extracerebral space was widened. Genetic testing confirmed that the patient carried the

conclusionThis is the first case report of LIS that is likely caused by mutations of the

Indexed as

Case reportCompound heterozygous mutationsEpilepsyGPR56 mutationsLissencephaly

Identifiers

PMID35097086
PMCPMC8771398
OpenAlexW4206355208

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.