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References OMIM Gene GeneReviews HGMD HGNC
last update : 16-06-2010
Symbol EIEE1
Location Xp21.3
Name epileptic encephalopathy, early infantile, 1
Other name(s)
  • Ohtahara syndrome
  • early infantile epileptic encephalopathy with suppression-burst, X-linked
  • X-linked infantile spasm syndrome-1
  • West syndrome, X-linked
  • Corresponding gene ARX
    Other symbol(s) EIEEX, ISSX1, XMESID
    Main clinical features early onset of tonic spasms, seizure intractability, a characteristic suppression-burst pattern on the electroencephalogram (EEG) and poor outcome with severe psychomotor retardation
    Genetic determination sex linked
    Function/system disorder neurology
    Type disease