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A novel ATP1A3 mutation with unique clinical presentation.

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第一作者： Hendrik,Rosewich

第一单位： Department of Pediatrics and Adolescent Medicine, Division of Pediatric Neurology, University Medical Center, Georg August University, Göttingen, Germany. Electronic address: hendrik.rosewich@med.uni-goettingen.de.

作者： Hendrik,Rosewich ^[1] ; Martina,Baethmann ^[2] ; Andreas,Ohlenbusch ^[3] ; Jutta,Gärtner ^[4] ; Knut,Brockmann ^[5]

作者单位： Department of Pediatrics and Adolescent Medicine, Division of Pediatric Neurology, University Medical Center, Georg August University, Göttingen, Germany. Electronic address: hendrik.rosewich@med.uni-goettingen.de. ^[1] Department of Pediatrics, Hospital "Dritter Orden", Munich, Germany. Electronic address: M.Baethmann@dritter-orden.de. ^[2] Department of Pediatrics and Adolescent Medicine, Division of Pediatric Neurology, University Medical Center, Georg August University, Göttingen, Germany. Electronic address: aohlenb@gwdg.de. ^[3] Department of Pediatrics and Adolescent Medicine, Division of Pediatric Neurology, University Medical Center, Georg August University, Göttingen, Germany. Electronic address: gaertnj@med.uni-goettingen.de. ^[4] Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, University Medical Center, Georg August University, Göttingen, Germany. Electronic address: kbrock@med.uni-goettingen.de. ^[5]

关键词 ATP1A3 Alternating hemiplegia of childhood Episodic weakness Eye closure Paroxysmal flaccidity Rapid-onset dystonia-parkinsonism

医学主题词青少年(Adolescent);张力障碍(Dystonic Disorders);女(雌)性(Female);人类(Humans);突变(Mutation);钠钾交换ATP酶(Sodium-Potassium-Exchanging ATPase)

DOI 10.1016/j.jns.2014.03.034

PMID 24713507

发布时间 2019-12-10

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准确一般字义偏差语意偏离译文作用小提交