Genetics and gene therapy in Dravet syndrome.

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第一作者： Norimichi,Higurashi

第一单位： Department of Pediatrics, Jikei University School of Medicine, Tokyo, Japan. Electronic address: nori_@jikei.ac.jp.

作者： Norimichi,Higurashi ^[1] ; Vania,Broccoli ^[2] ; Shinichi,Hirose ^[3]

作者单位： Department of Pediatrics, Jikei University School of Medicine, Tokyo, Japan. Electronic address: nori_@jikei.ac.jp. ^[1] Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy; National Research Council of Italy, Neuroscience Institute, Milan, Italy. Electronic address: broccoli.vania@hsr.it. ^[2] General Medical Research Center, School of Medicine, Fukuoka University, Fukuoka, Japan. ^[3]

关键词 CRISPR-Cas9 Developmental and epileptic encephalopathy Haploinsufficiency Na(V)1.1 SCN1A Somatic mosaicism

主题词癫痫, 肌阵挛性(Epilepsies, Myoclonic);癫痫(Epilepsy);人类(Humans);痉挛, 婴儿(Spasms, Infantile)

DOI 10.1016/j.yebeh.2021.108043

PMID 34053869

发布时间 2022-06-26

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