Evidence map›Paper›PMID 42158268›Full record

ArticleNeurology. Genetics2026

Diagnostic Genetic Findings From Exome Sequencing in a Cohort of 1,109 Children With Epilepsy.

Fan Wu, Xinna Ji, Peidi Cheng, Suzhou Zhao, Shuo Feng, Wanting Liu, Jinxiao Chen, Xue Zhang, Hongxing Wang, Qian Chen

Abstract read
In one paragraph

Article in Neurology. Genetics, 2026. 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
–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

1 citing paper in PubMed.

  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.

Fan WuDepartment of Neurology, Capital Institute of Pediatrics, Beijing, China.ORCID https://orcid.org/0009-0002-3417-6939
Xinna JiDepartment of Neurology, Capital Institute of Pediatrics, Beijing, China.ORCID https://orcid.org/0000-0003-2832-2936
Peidi ChengDepartment of Neurology, Capital Institute of Pediatrics, Beijing, China.ORCID https://orcid.org/0009-0001-3895-581X
Suzhou ZhaoFujungenetics Biotechnology Co., Ltd, Beijing, China.ORCID https://orcid.org/0000-0002-6545-6223
Shuo FengDepartment of Neurology, Capital Institute of Pediatrics, Beijing, China.ORCID https://orcid.org/0009-0004-1988-7315
Wanting LiuDepartment of Neurology, Capital Institute of Pediatrics, Beijing, China.ORCID https://orcid.org/0000-0003-3425-2348
Jinxiao ChenDepartment of Neurology, Capital Institute of Pediatrics, Beijing, China.
Xue ZhangState Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China; and.ORCID https://orcid.org/0000-0002-8297-9931
Hongxing WangDivision of Neuropsychiatry and Psychosomatics, Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.ORCID https://orcid.org/0000-0002-7942-9330
Qian ChenDepartment of Neurology, Capital Institute of Pediatrics, Beijing, China.ORCID https://orcid.org/0000-0002-3296-7596

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background and Objectives: Genetic testing has emerged as a transformative tool for the diagnosis and treatment of epilepsy. The aim of this study was to characterize the genetic basis of pediatric epilepsy. Methods: We analyzed a cohort of 1,109 children with epilepsy who underwent whole-exome sequencing. Genetic findings were interpreted based on medical records and genetic testing results. Results: Genetic diagnostic results were found in 405 of 1,109 patients, with a diagnostic yield of 36.5%. The Discussion: This single-center study provides a comprehensive overview of the genetic landscape of pediatric epilepsy, enhancing our understanding of the genetic basis and offering insights for clinical diagnosis and genetic counseling. These findings underscore the clinical utility of genetic testing in pediatric epilepsy.

Identifiers

PMID42158268
PMCPMC13182736

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.