Novel CDKL5 mutations were found in patients in China: retrospective investigation in cases of CDKL5-related disorders

Novel CDKL5 mutations were found in patients in China: retrospective investigation in cases of CDKL5-related disorders

Abstract Objective CDKL5-related disorders (CDD) is an epileptic encephalopathy resulted of gene mutations of CDKL5. This study aimed to explore the development process of CDD and to expand its mutation spectrum. Methods Clinic datawas collected about three infantile epileptic encephalopathy cases d...

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Bibliographic Details
Main Authors: Yumei Yan, Dake He, Jing Wu, Ruolin Hou, Kun Sun, Ling Li
Format: Article
Language:English
Published: BMC 2020-02-01
Series:Italian Journal of Pediatrics
Subjects:
de novo
Mutations
CDKL5
CDKL5-related disorders (CDD)
Intellectual disability
Epileptic encephalopathy
Online Access:http://link.springer.com/article/10.1186/s13052-020-0775-y

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http://link.springer.com/article/10.1186/s13052-020-0775-y

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