Evidence map›Paper›PMID 35217970›Full record

ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2022

Genetic analysis and identification of novel variations in Chinese patients with pediatric epilepsy by whole-exome sequencing.

Xuechao Zhao, Haofeng Ning, Yanhong Wang, Ganye Zhao, Shiyue Mei, Ning Liu, Conghui Wang, Aojie Cai, Erhu Wei, Xiangdong Kong

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In one paragraph

Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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
1.1field-weighted citation impact, top 21% 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, 6 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

10 authors at 3 institutions in 1 country.

Xuechao ZhaoThe Genetics and Prenatal Diagnosis Center, The Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Jianshe Rd, Erqi District, Zhengzhou, 450052, Henan, China.
Haofeng NingDepartment of Medical Genetics and Antenatal Diagnosis, Luoyang Maternal and Child Health Care Hospital, Luoyang, 471000, Henan, China.
Yanhong WangHenan Provincial Key Laboratory of Children's Genetics and Metabolic Diseases, Children's Hospital Affiliated To Zhengzhou University, Zhengzhou Children's Hospital, No-33, Longhu Waihuan East road, Zhengzhou, 450018, Henan, China.
Ganye ZhaoThe Genetics and Prenatal Diagnosis Center, The Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Jianshe Rd, Erqi District, Zhengzhou, 450052, Henan, China.
Shiyue MeiHenan Provincial Key Laboratory of Children's Genetics and Metabolic Diseases, Children's Hospital Affiliated To Zhengzhou University, Zhengzhou Children's Hospital, No-33, Longhu Waihuan East road, Zhengzhou, 450018, Henan, China.
Ning LiuThe Genetics and Prenatal Diagnosis Center, The Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Jianshe Rd, Erqi District, Zhengzhou, 450052, Henan, China.
Conghui WangThe Genetics and Prenatal Diagnosis Center, The Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Jianshe Rd, Erqi District, Zhengzhou, 450052, Henan, China.
Aojie CaiDepartment of Pediatrics, Peking University First Hospital, Beijing, 100034, China.
Erhu WeiDepartment of Pediatrics, First Affiliated Hospital of Zhengzhou University, Jianshe Rd, Erqi District, Zhengzhou, 450052, Henan, China.
Xiangdong KongThe Genetics and Prenatal Diagnosis Center, The Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Jianshe Rd, Erqi District, Zhengzhou, 450052, Henan, China. kxd1968@163.com.ORCID http://orcid.org/0000-0001-5685-8055
First Affiliated Hospital of Zhengzhou University · CNZhengzhou University · CNPeking University · CN

Funding

Natural Science Foundation of Henan Province 202300410421
6 · The paper itself

Abstract

objectivesWe aimed to investigate the genetic etiology of epilepsy in children, and to analyze the nature of genetic variation, the function of related genes, and the genotype-phenotype relationship. Moreover, the impact of the genetic diagnosis on prognosis and prenatal diagnosis will be discussed.

methodsWe recruited 218 pediatric epilepsy patients with onset ages ranging from postnatal 5 days to 3 years during a three-year collection period. WES was conducted only for the probands to screen for possible candidate genes.

resultsA total of 55 patients (25.2%) had positive genetic diagnoses. Autosomal dominant gene variants were the most common (34/55; 61.8%) and de novo variants (31/34; 91.2%) consistent with an autosomal dominant mode of inheritance. Among 64 variants identified in 35 genes, 33 (51.6%) were novel, previously unreported. Ion channel genes play critical roles in the pathogenesis of epilepsy, accounting for 58.8% (20/34) of the variants. A total of 31 (56.4%) families chose to have a prenatal diagnosis in subsequent pregnancies based on the genetic diagnosis.

conclusionOur data suggest that applying WES in patients with epilepsy of unknown etiology can improve counseling and management. Early establishment of genetic diagnosis was necessary for counseling on recurrence risk and prenatal diagnosis. A large number of unreported variants were detected, widening the known spectrum of genetic variation related to epilepsy risk.

Indexed as

EpilepsyGenetic TestingAsian PeopleChild, PreschoolChinaExome SequencingFemaleHumansInfantInfant, NewbornPregnancyDe novoGenetic analysisNovel variantsPediatric epilepsyWhole-exome sequencing

Identifiers

PMID35217970
OpenAlexW4214511408

What OpenQuestion holds

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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.