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References OMIM Gene GeneReviews HGMD HGNC
last update : 13-02-2018
Symbol EIEE52
Location 19q13.11
Name epileptic encephalopathy, early infantile, 52
Other name(s)
  • Dravet syndrome
  • severe myoclonic epilepsy in infancy 3
  • Corresponding gene SCN1B
    Other symbol(s) SMEI3
    Main clinical features
  • severe infantile onset epilepsy syndrome with multiple seizure types, developmental slowing and poor outcome and is considered to be the most severe phenotype within the spectrum of generalized (genetic) epilepsy with febrile seizures (GEFS+)
  • infantile onset of refractory seizures with resultant delayed global neurologic development that causes intellectual disability and other persistent neurologic abnormalities
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease