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last update : 26-08-2014
Symbol EIEE25
Location 17p13
Name early-onset epileptic encephalopathy-25
Corresponding gene SLC13A5
Main clinical features
  • onset of seizures between the first hours and first 7 days of life
  • seizures were manifest as chewing, cyanosis, clonic movements, abnormal ocular movements, and status epilepticus
  • EEG studies showed multiple abnormalities, such as rhythmic theta/delta focal discharges from both hemispheres that often involved the temporal or occipital lobes, or multifocal status epilepticus, associated with profound or severe delayed development with lack of speech, and most patients did not acquire the ability to sit
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease