title: ATP1A3 mutation in a Chinese girl with alternating hemiplegia of childhood--Potential target of treatment?
abstract: BACKGROUND
  This Chinese girl had alternating hemiplegia of childhood (AHC) since 2 months. She failed to respond to anticonvulsants, antimigrainous drugs and calcium channel blockers but achieved complete remission steroid treatment for 4 weeks and relapsed after stopping steroid.
  
  
  OBJECTIVE
  In order to clarify the unknown etiology, genetic analysis of ATP1A3 gene, which encodes the alpha3-subunit of the sodium/potassium-transporting ATPase (Na, K-ATPase), has been done by Sanger sequencing.
  
  
  RESULTS
  A de novo heterozygous missense mutation (c.2401G>A; p.D801N) was identified in exon 17 of ATP1A3 gene and this is one of the hotspot mutations found in AHC patients.
  
  
  CONCLUSIONS
  It will be interesting to further investigate whether Na, K-ATPase was the target of corticosteroid treatment.
authors: Division of Paediatric Neurology/Developmental Behavioural Paediatrics/NeuroHabilitation, Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China. Electronic address: vcnwong@hku.hk.
authors: Virginia C N
authors: VC
authors: Wong
authors: Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China.
authors: Anna K Y
authors: AK
authors: Kwong
mesh_terms: D000305:Adrenal Cortex Hormones / Q000627:therapeutic use; D044466:Asian People; D005260:Female; D006429:Hemiplegia / Q000188:drug therapy / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense; D000254:Sodium-Potassium-Exchanging ATPase / Q000235:genetics*; D016896:Treatment Outcome
chemical_list: C488756:ATP1A3 protein, human; D000305:Adrenal Cortex Hormones; D000254:Sodium-Potassium-Exchanging ATPase
keywords: ATP1A3; Alternating hemiplegia; Corticosteroid; Na, K-ATPase; Sodium/potassium-transporting ATPase