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[WAC gene pathogenic variation cause DeSanto-Shinawi syndrome with electrical status epilepticus during sleep].

作者信息

Zhang Y J, Yao P L, Zhou Y F, Qiu T, Wang J, Wang X H, Zhou S Z, Wu B B, Wang Y

机构信息

Department of Neurology, Children's Hospital of Fudan University, Shanghai 201102, China.

Molecular Genetic Diagnosis Center, Shanghai Key Lab of Birth Defects, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai 201102, China.

出版信息

Zhonghua Er Ke Za Zhi. 2019 Oct 2;57(10):802-804. doi: 10.3760/cma.j.issn.0578-1310.2019.10.015.

DOI:10.3760/cma.j.issn.0578-1310.2019.10.015
PMID:31594069
Abstract
摘要

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Mo Med. 2024 Jul-Aug;121(4):304-309.
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Phenotypic comparison of patients affected with DeSanto-Shinawi syndrome: Point mutations in WAC gene versus a 10p12.1 microdeletion including WAC.
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Electrical Status Epilepticus During Slow-wave Sleep (ESES): Current Perspectives.慢波睡眠期癫痫性电持续状态（ESES）：当前观点
J Pediatr Neurosci. 2021 Apr-Jun;16(2):91-96. doi: 10.4103/jpn.JPN_137_20. Epub 2021 Jul 2.
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