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[Correlation between clinical phenotypes and genotypes among 46 children with SCN1A-related developmental epileptic encephalopathy].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2024

Peng Bingwei, Zhu Haixia, Tian Yang, Li Xiaojing, Wang Xiuying, Gao Yuanyuan, Zhang Yani, Shen Huiling, Chen Wenxiong

Abstract excerpt

OBJECTIVE: To explore the correlation between clinical phenotypes and genotypes among 46 children with SCN1A-related developmental epileptic encephalopathy (DEE). METHODS: Clinical data of 46 children with DEE and SCN1A variants identified at the Guangzhou Women and Children's Medical Center between January 2018 and June 2022 were collected. The children were grouped based on their age of onset, clinical...

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PMID: 38565507
DOI: 10.3760/cma.j.cn511374-20230421-00227

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