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References OMIM Gene GeneReviews HGMD HGNC
last update : 18-11-2013
Symbol EIEE11
Location 2q24.3
Name epileptic encephalopathy, early infantile, 11
Corresponding gene SCN2A
Main clinical features
  • infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities, mental retardation
  • convulsive and atonic seizures continued throughout childhood and were difficult to treat, with severe intellectual and psychomotor retardation but no paralysis; brain MRI showed moderate diffuse brain atrophy
  • Genetic determination autosomal dominant
    Function/system disorder mental retardation
    Type disease