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References OMIM Gene GeneReviews HGMD HGNC
last update : 12-04-2019
Symbol EIEE72
Location 17q12
Name epileptic encephalopathy, early infantile, 72
Corresponding gene NEUROD2
Main clinical features
  • global developmental delay and refractory seizures associated with hypsarrhythmia
  • axial hypotonia with hyperkinetic movements of the upper extremities, trunk, and face
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease