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GENATLAS PHENOTYPE
last update : 04-05-2015
Symbol EIEE21
Location 12p13.31
Name epileptic encephalopathy, early infantile, 21
Corresponding gene NECAP1
Main clinical features
  • early infantile epileptic encephalopathy with decreased fetal movements during pregnancy; shortly after birth, they showed poor feeding and hypotonia, and all developed intractable seizures in early infancy
  • psychomotor development was profoundly delayed
  • EEG showed generalized slowing consistent with diffuse encephalopathy, and brain MRI showed nonspecific brain atrophy
  • Genetic determination autosomal recessive
    Function/system disorder mental retardation
    neurology
    Type disease
    Remark(s)