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References OMIM Gene GeneReviews HGMD HGNC
last update : 18-11-2016
Symbol EIEE42
Location 19p13.13
Name epileptic encephalopathy, early infantile, 42
Corresponding gene CACNA1A
Main clinical features
  • onset of myoclonic seizures soon after birth and thereafter showed severe intellectual disability; EEG showed generalized and poly-spike wave discharges and generalized background slowing
  • other features included alternating esotropia, nystagmus, ataxic gait, contractures, hypotonia, and autistic feature
  • delayed global development with moderate to severe intellectual disability
  • Genetic determination not applicable
    Function/system disorder mental retardation
    Type disease