Copyright
©The Author(s) 2018. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Oct 26, 2018; 6(12): 570-576
Published online Oct 26, 2018. doi: 10.12998/wjcc.v6.i12.570
Published online Oct 26, 2018. doi: 10.12998/wjcc.v6.i12.570
CNKSR2 mutation causes the X-linked epilepsy-aphasia syndrome: A case report and review of literature
Ying Sun, Yi-Dan Liu, Cheeloo College of Medicine, Shandong University, Jinan 250012, Shandong Province, China
Zhi-Feng Xu, First Hospital of Handan, Handan 056002, Hebei Province, China
Qing-Xia Kong, Yan-Ling Wang, Department of Neurology, Affiliated Hospital of Jining Medical University, Jining 272000, Shandong Province, China
Author contributions: Kong QX and Wang YL designed the study and wrote the manuscript; Sun Y, Liu YD and Xu ZF collected the clinical data and edited the manuscript.
Supported by Jining Medical University , No. JYP201740 .
Informed consent statement: The patient involved in this study gave his written informed consent authorizing use and disclosure of his protected health information.
Conflict-of-interest statement: All authors have declared no competing interests exist.
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/
Correspondence to: 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
Telephone: +86-18678766805 Fax: +86-537-2213030
Received: July 2, 2018
Peer-review started: July 2, 2018
First decision: July 29, 2018
Revised: August 21, 2018
Accepted: August 28, 2018
Article in press: August 28, 2018
Published online: October 26, 2018
Peer-review started: July 2, 2018
First decision: July 29, 2018
Revised: August 21, 2018
Accepted: August 28, 2018
Article in press: August 28, 2018
Published online: October 26, 2018
Core Tip
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.