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GENATLAS PHENOTYPE
last update : 15-10-2013
Symbol EEIV
Location 16q12.2
Name epileptic encephalopathy and involuntary movements
Other name(s)
  • Ohtahara syndrome
  • Epileptic encephalopathy, early infantile,17
  • Corresponding gene GNAO1
    Other symbol(s) EIEE17
    Main clinical features
  • epileptic encephalopathy, with severe and progressive cognitive and behavioral impairments, caused or made worse by epileptic activity
  • tonic seizures with suppression-burst pattern on EEG at the onset
  • intractable epileptic seizures in spite of combinatory therapy of antiepileptic drugs, and severe intellectual disability and motor developmental delay
  • Genetic determination not applicable
    Function/system disorder neurology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function  
    Remark(s)