Evidence map›Paper›PMID 40635539›Full record

ArticleJournal of clinical neurology (Seoul, Korea)2025

The Genetic Landscape of Acute Necrotizing Encephalopathy: Insights Into the Possible Pathogenesis.

Chang Geng, Yalin Ju, Jing Wang, Weihua Zhang, Xiao Yang, Qinzhou Wang, Siyuan Fan, Haitao Ren, Ming Yao, Bin Peng and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of clinical neurology (Seoul, Korea), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Article
  3. 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

11 authors.

Chang GengDepartment of Neurology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.ORCID https://orcid.org/0000-0001-6982-1104
Yalin JuDepartment of Neurology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.ORCID https://orcid.org/0000-0003-0258-5519
Jing WangDepartment of Psychology, University of Chinese Academy of Sciences, Beijing, China.ORCID https://orcid.org/0000-0002-2512-0223
Weihua ZhangDepartment of Neurology, Beijing Children Hospital, Capital Medical University, National Center of Children's Health, Beijing, China.
Xiao YangDepartment of Neurology, General Hospital of Ningxia Medical University, Ningxia, China.ORCID https://orcid.org/0000-0003-3065-7225
Qinzhou WangDepartment of Neurology, Qilu Hospital of Shandong University, Shandong, China.ORCID https://orcid.org/0000-0001-5652-3431
Siyuan FanDepartment of Neurology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.ORCID https://orcid.org/0000-0001-8016-9110
Haitao RenDepartment of Neurology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.ORCID https://orcid.org/0009-0002-9654-7547
Ming YaoDepartment of Neurology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.ORCID https://orcid.org/0000-0003-2104-3248
Bin PengDepartment of Neurology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China. pengbinPUMCH@163.com.ORCID https://orcid.org/0000-0001-5211-1544
Hongzhi GuanDepartment of Neurology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China. pumchghz@126.com.ORCID https://orcid.org/0000-0003-3903-5078

Funding

National High Level Hospital Clinical Research Funding 2022-PUMCH-B-120
6 · The paper itself

Abstract

background and purposeAcute necrotizing encephalopathy (ANE) is a rare and severe type of parainfectious encephalopathy. The pathogenesis and genetic features of ANE remain underinvestigated. In this study we aimed to characterize the genetic profiles of ANE, including novel variants and pathways.

methodsWe conducted a retrospective cohort study of 16 ANE patients and 7 controls, collecting clinical data, cerebrospinal fluid (CSF) findings, neuroimaging findings, and treatment information. Whole-exome sequencing (WES) was performed to investigate potential function-impacting genetic mutations in

resultsThe median age of the ANE patients was 21 years, and viral infections such as SARS-CoV-2 and influenza were common triggers. The CSF interleukin-6 level was elevated in four patients (median=598 pg/mL, interquartile range=101-4,000 pg/mL). WES identified 278 low-frequency variants. Four pathogenic/likely pathogenic mutations (p.T585M and p.I656V) and one novel mutation of uncertain significance (p.P2733S) were identified in

conclusionsThis study integrated genetic profiles with the clinical characteristics of ANE patients, and revealed the role of

Indexed as

acute febrile encephalopathyCOVID-19mutationwhole-exome sequencing

Identifiers

PMID40635539
PMCPMC12303680

What Socratic 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 Socratic graph.