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New-onset refractory status epilepticus

ORPHA:363558 · Disease · Disorder

HPO 表現型（共 37 項）

Obligate (100%)(1)

  • Status epilepticusHP:0002133

Very frequent (99-80%)(3)

  • Interictal EEG abnormalityHP:0025373
  • Refractory status epilepticusHP:0032867
  • Seizure precipitated by febrile infectionHP:0032894

Frequent (79-30%)(18)

  • Abnormal circulating interleukin concentrationHP:0011117
  • Abnormal head movementsHP:0002457
  • AutoimmunityHP:0002960
  • Bilateral tonic-clonic seizure with focal onsetHP:0007334
  • Brain imaging abnormalityHP:0410263
  • Cognitive impairmentHP:0100543
  • CSF pleocytosisHP:0012229
  • EEG with frontal epileptiform dischargesHP:0033716
  • EEG with generalized slow activityHP:0010845
  • EEG with temporal epileptiform dischargesHP:0033717
  • Facial ticsHP:0011468
  • FeverHP:0001945
  • Focal autonomic seizureHP:0011154
  • Focal aware motor seizureHP:0020217
  • Focal impaired awareness seizureHP:0002384
  • Focal T2 hyperintense basal ganglia lesionHP:0007183
  • Functional motor deficitHP:0004302
  • Increased CSF protein concentrationHP:0002922

Occasional (29-5%)(13)

  • Abnormal thalamic MRI signal intensityHP:0012696
  • Atypical behaviorHP:0000708
  • Cerebellar edemaHP:0030915
  • ConfusionHP:0001289
  • EEG with generalized epileptiform dischargesHP:0011198
  • EEG with spike-wave complexesHP:0010850
  • FatigueHP:0012378
  • Global brain atrophyHP:0002283
  • HeadacheHP:0002315
  • Infectious encephalitisHP:0002383
  • Multifocal epileptiform dischargesHP:0010841
  • Myoclonic seizureHP:0032794
  • Vegetative stateHP:0031358

Very rare (<4-1%)(2)

  • Abnormal basal ganglia MRI signal intensityHP:0012751
  • Status epilepticus without prominent motor symptomsHP:0031475