Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1A

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作者： Okubo, Yukimune ^[1] ; Shibuya, Moriei ^[2] ; Nakamura, Haruhiko ^[3] ; Kawashima, Aritomo ^[4] ; Kodama, Kaori ^[5] ; Endo, Wakaba ; Inui, Takehiko ; Togashi, Noriko ; Aihara, Yu ; Shirota, Matsuyuki ; Funayama, Ryo ; Niihori, Tetsuya ; Fujita, Atsushi ; Nakayama, Keiko ; Aoki, Yoko ; Matsumoto, Naomichi ; Kure, Shigeo ; Kikuchi, Atsuo ; Haginoya, Kazuhiro

作者单位： Dept Pediat Neurol,Miyagi Childrens Hosp ^[1] Sch Med,Tohoku Univ ^[2] Grad Sch Med,Tohoku Univ ^[3] Dept Med Genet,Tohoku Univ ^[4] Grad Sch Med,Yokohama City Univ ^[5]

关键词 SCN1A Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis Early infantile developmental and epileptic encephalopathy with movement disorders Early infantile SCN1A epileptic encephalopathy Arthrogryposis multiplex congenita Scoliosis CONGENITAL CONTRACTURES GENETIC-VARIATION MUTATIONS

发布时间 2023-11-03

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