Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 18-11-2013
Symbol EIEE15
Location 1p34.1
Name Epileptic encephalopathy, early infantile 15
Corresponding gene ST3GAL3
Main clinical features
  • severe early infantile epileptic encephalopathy consistent with West syndrom with infantile spasms, mainly of the flexor type, which were accompanied by hypsarrhythmia on EEG and major mental retardation, unability to speak or walk independently
  • most patients remain mentally retarded and many develop Lennox-Gastaut syndrome
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
  • mutation affected an essential sialyl-motif and abolished enzymatic activity (PMID: 23252400))