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Articles Published Processes
5/16/2023 9:24:22 AM | Browse: 196 | Download: 684
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Received |
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2023-02-16 13:07 |
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Peer-Review Started |
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2023-02-16 13:10 |
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To Make the First Decision |
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Return for Revision |
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2023-03-14 07:51 |
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Revised |
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2023-03-26 15:29 |
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Second Decision |
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2023-04-11 02:59 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2023-04-12 02:04 |
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Articles in Press |
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2023-04-12 02:04 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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Typeset the Manuscript |
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2023-04-28 00:54 |
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Publish the Manuscript Online |
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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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Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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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
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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 |
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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 |
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Corresponding Author |
Gang Zhang, MD, PhD, Doctor, 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 |
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