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GENATLAS PHENOTYPE
last update : 01-07-2016
Symbol EIEE27
Location 12p13.1
Name epileptic encephalopathy, early infantile, 27
Corresponding gene GRIN2B
Main clinical features
  • myoclonic seizures and spasms, episodic hyperextension of the axial muscles
  • EEG showed multifocal bursts of irregular spike waves and bilateral generalized spike waves reminiscent of modified hypsarrhythmia
  • severe feeding problems, mild microcephaly, and autistic-like behavior
  • Genetic determination not applicable
    Function/system disorder mental retardation
    neurology
    Type disease
    Remark(s)