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5/16/2023 9:24:22 AM | Browse: 92 | Download: 227
Publication Name World Journal of Clinical Cases
Manuscript ID 83915
Country/Territory China
Received
2023-02-16 13:07
Peer-Review Started
2023-02-16 13:10
To Make the First Decision
Return for Revision
2023-03-14 07:51
Revised
2023-03-26 15:29
Second Decision
2023-04-11 02:59
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2023-04-12 02:04
Articles in Press
2023-04-12 02:04
Publication Fee Transferred
Edit the Manuscript by Language Editor
Typeset the Manuscript
2023-04-28 00:54
Publish the Manuscript Online
2023-05-16 09:24
ISSN 2307-8960 (online)
Open Access This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Copyright ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
Article Reprints For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
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Publisher Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Website http://www.wjgnet.com
Category Clinical Neurology
Manuscript Type Case Report
Article Title De novo mutation of NAXE (APOAIBP)-related early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1: A case report
Manuscript Source Unsolicited Manuscript
All Author List Le Ding, Ting-Ting Huang, Guo-Huan Ying, Shang-Yu Wang, Hai-Feng Xu, Hao Qian, Faiza Rahman, Xiao-Peng Lu, Hu Guo, Guo Zheng and Gang Zhang
ORCID
Author(s) ORCID Number
Le Ding http://orcid.org/0000-0002-8710-1685
Ting-Ting Huang http://orcid.org/0000-0001-5177-416X
Guo Zheng http://orcid.org/0000-0001-7525-9680
Gang Zhang http://orcid.org/0000-0001-5729-7667
Funding Agency and Grant Number
Funding Agency Grant Number
Epilepsy Research Fund of Chinese Anti-Epilepsy Association No. CU-A-2021-17
Nanjing Municipal Health Bureau key project No. ZKX21047
the Postdoctoral Research Foundation of China No. 2020M671550
Corresponding Author Gang Zhang, MD, PhD, Doctor, Department of Neurology, Children’s Hospital of Nanjing Medical University, No. 72 Guangzhou Road, Nanjing 210008, Jiangsu Province, China. zhanggangnjmu@126.com
Key Words Encephalopathy; Respiratory insufficiency; Cerebral edema; NAXE gene; APOAIBP gene; Novel variation; Case report
Core Tip We report a girl with early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1 (PEBEL1), and review the reported cases in the literature. The disease has rapid progression with an unfavorable prognosis. Gene detection is the only diagnostic method. We report the first case of PEBEL1 with severe clinical phenotype in Mainland China.
Publish Date 2023-05-16 09:24
Citation Ding L, Huang TT, Ying GH, Wang SY, Xu HF, Qian H, Rahman F, Lu XP, Guo H, Zheng G, Zhang G. De novo mutation of NAXE (APOAIBP)-related early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1: A case report. World J Clin Cases 2023; 11(14): 3340-3350
URL https://www.wjgnet.com/2307-8960/full/v11/i14/3340.htm
DOI https://dx.doi.org/10.12998/wjcc.v11.i14.3340
Full Article (PDF) WJCC-11-3340.pdf
Full Article (Word) WJCC-11-3340.docx
CARE Checklist–2016 83915-CARE-Checklist–2016-revision.docx
Manuscript File 83915_Auto_Edited-LJH-JLW.docx
Answering Reviewers 83915-Answering reviewers.pdf
Audio Core Tip 83915-Audio core tip.m4a
Conflict-of-Interest Disclosure Form 83915-Conflict-of-interest statement.pdf
Copyright License Agreement 83915-Copyright license agreement.pdf
Approved Grant Application Form(s) or Funding Agency Copy of any Approval Document(s) 83915-Grant application form(s).pdf
Signed Consent for Treatment Form(s) or Document(s) 83915-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate 83915-Language certificate.pdf
Peer-review Report 83915-Peer-review(s).pdf
Scientific Misconduct Check 83915-Bing-Liu JH-2.png
Scientific Misconduct Check 83915-CrossCheck.png
Scientific Editor Work List 83915-Scientific editor work list.pdf