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Article

[Gene mutations in unexplained infantile epileptic encephalopathy: an analysis of 47 cases].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Feb 2018

Wei Chun-Miao, Xia Gui-Zhi, Ren Rong-Na

Abstract excerpt

OBJECTIVE: To investigate the characteristics of gene mutations in unexplained infantile epileptic encephalopathy (EE). METHODS: A total of 47 infants with unexplained infantile EE were enrolled, and next-generation sequencing was used to analyze gene mutations in these infants and their parents. RESULTS: Of all 47 infants, 23 were found to have gene mutations, among whom 13 had de novo mutations and 10 had...

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PMID: 29429461
PMCID: PMC7389238

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