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Novel D0CK7 mutations in a Chinese patient with early infantile epileptic encephalopathy 23

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摘要 To the Editor: Early infantile epileptic encephalopathy 23 (EIEE23;OMIM #615859) is a rare (<1/1,000,000 worldwide) kind of inherited autosomal recessive disorder. Patients with EIEE23 are characterized by in tractable seizures between 2 and 6 months of age.
出处 《中华医学杂志:英文版》 SCIE CAS CSCD 2019年第5期600-603,共4页 Chinese Medical Journal
基金 the China Postdoctoral Science Foundation (2016M602729 to B. B.) Health Technology Commission of Yunnan Province (2016NS235 to B.B.).
作者简介 Correspondence to: Dr.Bao-Sheng Zhu,Department of Pediatrics,The First People&#39;s Hospital of Yunnan Province,No.157 Jinbi Road, XiShan District,Kunming, Yunnan 650032,China E-Mail:bszhu@kmust.edu.cn.
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