title: Clinical features and long exercise test in Chinese patients with Andersen-Tawil syndrome.
abstract: Andersen-Tawil syndrome (ATS) is a rare multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, and developmental dysmorphology. There are few reports concerning ATS in the Chinese population. We analyzed clinical features and evaluated the long exercise test as a tool for diagnosis of periodic paralysis in ATS.
  
  
  
  Direct sequencing of KCNJ2 was performed in 12 subjects from mainland China with suspected ATS. Clinical features, therapeutic responses, and long exercise tests (LET) were retrospectively analyzed.
  
  
  
  Twelve patients were genetically confirmed to have ATS. A small mandible and clinodactyly were demonstrated in all patients. Premature ventricular contractions were the most prevalent form of cardiac arrhythmia. The LET revealed an early amplitude decrement.
  
  
  
  Chinese ATS patients shared some common clinical features with reported subjects in other countries. An early amplitude decrement in LET may be useful for diagnosis of ATS. Muscle Nerve 54: 1059-1063, 2016.
authors.affiliation: Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China.
authors.forename: Jie
authors.initials: J
authors.lastname: Song
authors.affiliation: Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China.
authors.forename: Sushan
authors.initials: S
authors.lastname: Luo
authors.affiliation: Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China.
authors.forename: Xin
authors.initials: X
authors.lastname: Cheng
authors.affiliation: Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China.
authors.forename: Dongyue
authors.initials: D
authors.lastname: Yue
authors.affiliation: Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China.
authors.forename: Wenhua
authors.initials: W
authors.lastname: Zhu
authors.affiliation: Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China.
authors.forename: Jie
authors.initials: J
authors.lastname: Lin
authors.affiliation: Department of clinical electrophysiology, Institute of Neurology, Huashan Hospital, Fudan University, 12 Middle Wulumuqi Road, Shanghai, 200040, China.
authors.forename: Jun
authors.initials: J
authors.lastname: Huang
authors.affiliation: Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China.
authors.forename: Jiahong
authors.initials: J
authors.lastname: Lu
authors.affiliation: Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China.
authors.forename: Chongbo
authors.initials: C
authors.lastname: Zhao
authors.affiliation: Department of clinical electrophysiology, Institute of Neurology, Huashan Hospital, Fudan University, 12 Middle Wulumuqi Road, Shanghai, 200040, China.
authors.forename: Kai
authors.initials: K
authors.lastname: Qiao
mesh_terms: D000293:Adolescent; D000328:Adult; D050030:Andersen Syndrome / Q000235:genetics / Q000503:physiopathology*; D044466:Asian People; D002648:Child; D004252:DNA Mutational Analysis; D004576:Electromyography; D019054:Evoked Potentials, Motor / Q000502:physiology; D015444:Exercise / Q000502:physiology*; D005080:Exercise Test; D005260:Female; D006801:Humans; D051663:Kv1.2 Potassium Channel / Q000235:genetics; D008297:Male; D008958:Models, Molecular; D009154:Mutation / Q000235:genetics; D012189:Retrospective Studies; D055815:Young Adult
chemical_list: C496969:KCNA2 protein, human; D051663:Kv1.2 Potassium Channel
keywords: Andersen-Tawil syndrome; KCNJ2; amplitude decrement; long exercise test; methazolamide; periodic paralysis