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[Clinical manifestation and genetic analysis of a child with early infantile epileptic encephalopathy 42].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2021

Ran Yan, Lyu Yuan, Bai Hua, Li Chuang, Li-Ling Jesse

Abstract excerpt

OBJECTIVE: To analyze the clinical phenotype and genetic characterization of a child with early infantile epileptic encephalopathy. METHODS: The proband was subjected to history taking and was diagnosed based on his clinical manifestation, magnetic resonance imaging (MRI) and whole exome sequencing (WES). Sanger sequencing was carried out to determine the origin of pathogenic variant. RESULTS: The proband...

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PMID: 33565063
DOI: 10.3760/cma.j.cn511374-20201022-00743

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