Clinical phenotype, gene mutation and application of targeted next generation sequencing in patients with early-onset epileptic encephalopathy

Clinical phenotype, gene mutation and application of targeted next generation sequencing in patients with early-onset epileptic encephalopathy

Objective To study the clinical features and gene mutations of early-onset epileptic encephalopathy (EOEE) and to explore the application in pathogenic diagnosis of EOEE by next generation sequencing. Methods The clinical data of 68 cases diagnosed with unexplained EOEE between June 2014 and Decemb...

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Bibliographic Details
Main Authors: Xiao-jun LIU, Pei-yuan ZHANG, Mei-fang LEI, Xin-ping WEI, Xiao-li YU, Dong LI, Jian-bo SHU, Chun-quan CAI, Yu-qin ZHANG
Format: Article
Language:English
Published: Tianjin Huanhu Hospital 2018-06-01
Series:Chinese Journal of Contemporary Neurology and Neurosurgery
Subjects:
Epilepsy
Brain diseases
Genes
Mutation
Sequence analysis
Online Access:http://www.cjcnn.org/index.php/cjcnn/article/view/1795

Internet

http://www.cjcnn.org/index.php/cjcnn/article/view/1795

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