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References OMIM Gene GeneReviews HGMD HGNC
last update : 18-11-2016
Symbol EIEE43
Location 15q12
Name epileptic encephalopathy, early infantile, 43
Corresponding gene GABRB3
Main clinical features
  • onset of multiple seizure types within the first year of life, including absence, myoclonic, and generalized tonic-clonic seizures with global developmental delay and behavioral abnormalities
  • mild to profound intellectual disability
  • EEG showed multiple variable abnormalities, including generalized spike-wave discharges, background slowing, and hypsarrhythmia
  • Genetic determination autosomal dominant
    Function/system disorder mental retardation
    Type disease