Novel mutation in the KCNJ10 gene in three siblings with seizures, ataxia and no electrolyte abnormalities
作者: Muna A. Al DhaibaniAyman W. El-HattabKathryn B. HolroydJennifer Orthmann-MurphyValerie A. LarsonKhurram A. SiddiquiMiklos SzolicsNicoline Schiess
作者单位: 1Department of Pediatrics , Tawam Hospital , Al Ain , United Arab Emirates
2;Division of Clinical Genetics and Metabolic Disorders Pediatrics Department , Tawam Hospital , Al Ain , United Arab Emirates
3;Brigham and Women’s Hospital , Boston , MA , USA
4;Johns Hopkins Hospital and Health System , Baltimore , MD , USA
5;Al Ain Hospital , Al Ain , United Arab Emirates
6;Department of Neurology , Al Tawam Hospital , Al Ain , United Arab Emirates
7;Department of Neurology , Johns Hopkins University , Baltimore , MD , USA
刊名: Journal of Neurogenetics, 2018, Vol.32 (1), pp.1-5
来源数据库: Taylor & Francis Journal
DOI: 10.1080/01677063.2017.1404057
关键词: KCNJ10EAST syndromeKir4.1SeSAME syndrome
原始语种摘要: Abstract(#br)We report a consanguineous family with three affected siblings with novel mutation in the KCNJ10 gene. All three presented with central nervous system symptoms in the form of infantile focal seizures, ataxia, slurred speech with early developmental delay and intellectual disability in two siblings. None had any associated electrolyte abnormalities and no symptomatic hearing deficits were observed.
全文获取路径: Taylor & Francis  (合作)
影响因子:2.159 (2012)

  • ataxia 运动失调
  • mutation 变种
  • consanguineous 同源岩浆的
  • disability 回弹率
  • three 
  • electrolyte 电解液
  • hearing 听觉
  • infantile 幼年的
  • central 中心的
  • intellectual 知识分子