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8/28/2018 2:32:54 PM | Browse: 521 | Download: 507
Publication Name World Journal of Clinical Cases
Manuscript ID 40627
Country China
Category Medicine, Research & Experimental
Manuscript Type Case Report
Article Title CNKSR2 mutation causes the X-linked epilepsy-aphasia syndrome: A case report and review of literature
Manuscript Source Unsolicited Manuscript
All Author List Ying Sun, Yi-Dan Liu, Zhi-Feng Xu, Qing-Xia Kong and Yan-Ling Wang
Funding Agency and Grant Number
Funding Agency Grant Number
Jining Medical University JYP201740
Corresponding Author Qing-Xia Kong, MD, PhD, Chief Doctor, Department of Neurology, Affiliated Hospital of Jining Medical University, Guhuai Road No. 89, Jining 272000, Shandong Province, China. kxdqy8@sohu.com
Key Words Epilepsy; Language impairment; Mental retardation; De novo mutation of CNKSR2; X-linked epilepsy-aphasia syndrome
Core Tip Patient with epileptic seizures and progressive language impairment. Genetic testing revealed a de novo mutation of the CNKSR2 gene in the child and was not detected in the parents. Therefore, the gene may lead to X-linked epilepsy aphasia syndrome.
Citation Sun Y, Liu YD, Xu ZF, Kong QX, Wang YL. CNKSR2 mutation causes the X-linked epilepsy-aphasia syndrome: A case report and review of literature. World J Clin Cases 2018; 6(12): 570-576
Received
2018-07-02 00:39
Peer-Review Started
2018-07-02 01:55
To Make the First Decision
2018-08-01 03:08
Return for Revision
2018-08-07 01:57
Revised
2018-08-21 15:09
Second Decision
2018-08-28 10:47
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2018-08-28 14:32
Articles in Press
2018-08-28 14:32
Publication Fee Transferred
Edit the Manuscript by Language Editor
Typeset the Manuscript
2018-10-18 07:01
ISSN 2307-8960 (online)
Open Access This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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/
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