Novel variants of SYNGAP1 associated epileptic encephalopathy: two cases report and literature review

Novel variants of SYNGAP1 associated epileptic encephalopathy: two cases report and literature review

Abstract Background SYNGAP1 is a significant genetic risk factor for global developmental delay, autism spectrum disorder, and epileptic encephalopathy. De novo loss-of-function variants in this gene cause a neurodevelopmental disorder, for example, early-onset and drug-refractory seizures. We repor...

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Bibliographic Details
Main Authors: Xingying Zeng, Yong Chen, Xiongying Yu, Yuanyuan Che, Hui Chen, Zhaoshi Yi, Jie Qin, Jianmin Zhong
Format: Article
Language:English
Published: BMC 2023-02-01
Series:Acta Epileptologica
Subjects:
SYNGAP1
Epilepsy
Prednisone
Clonazepam
Case report
Online Access:https://doi.org/10.1186/s42494-022-00114-z

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