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GENATLAS PHENOTYPE
last update : 07-03-2018
Symbol EIEE60
Location 6p21.1
Name epileptic encephalopathy, early infantile, 60
Corresponding gene CNPY3
Main clinical features
  • intractable seizures mainly consisting of epileptic spasms and myoclonus
  • hypsarrhythmia on EEG
  • spastic quadriplegia or diplegia associated to mental retardation
  • brain magnetic resonance imaging (MRI) showed diffuse atrophic changes and malrotation of the hippocampus
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Remark(s)