[Clinical and genetic characteristics of children with STXBP1 encephalopathy].

Jia-Jie Cao、Xinna Ji、Yan Mao、P P Zhang、W T Liu、H Z Zhang、Ning Ding、Qian Chen

2020PubMedBiochemistry, Genetics and Molecular Biology被引 2

摘要

Development delay and epilepsy are the major and independent clinical phenotypes in children with STXBP1 encephalopathy. The variation of STXBP1 gene is mainly de novo. Levetiracetam and vigabatrin may be more effective in epilepsy control than other AEDs.

引用本文（GB/T 7714）

Jia-Jie Cao, Xinna Ji, Yan Mao, 等. [Clinical and genetic characteristics of children with STXBP1 encephalopathy].[J]. PubMed, 2020.

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DOI：https://doi.org/10.3760/cma.j.cn112140-20191028-00683

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