De Novo Germline Mutations in SEMA5A Associated With Infantile Spasms

De Novo Germline Mutations in SEMA5A Associated With Infantile Spasms

Infantile spasm (IS) is an early-onset epileptic encephalopathy that usually presents with hypsarrhythmia on an electroencephalogram with developmental impairment or regression. In this study, whole-exome sequencing was performed to detect potential pathogenic de novo mutations, and finally we ident...

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Bibliographic Details
Main Authors: Qiongdan Wang, Zhenwei Liu, Zhongdong Lin, Ru Zhang, Yutian Lu, Weijue Su, Feng Li, Xi Xu, Mengyun Tu, Yongliang Lou, Junzhao Zhao, Xiaoqun Zheng
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-07-01
Series:Frontiers in Genetics
Subjects:
epileptic encephalopathy
infantile spasms
de novo mutations
SEMA5A
whole-exome sequencing
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.00605/full

Internet

https://www.frontiersin.org/article/10.3389/fgene.2019.00605/full

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