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References OMIM Gene GeneReviews HGMD HGNC
last update : 05-07-2016
Symbol EIEE36
Location Xq23
Name epileptic encephalopathy, early infantile, 36
Corresponding gene ALG13
Main clinical features
  • neurodevelopmental disorder characterized by onset of seizures in infancy followed by delayed psychomotor development, with dysmorphic features
  • focal infantile spasms, global developmental delay and severe intellectual disability
  • EEG showed hypsarrhythmia and multifocal discharges; brain MRI showed cerebral atrophy
  • Genetic determination
    Function/system disorder
    Type disease