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GENATLAS PHENOTYPE
last update : 19-12-2016
Symbol SMEI4
Location 5q34
Name severe myoclonic epilepsy of infancy 4
Other name(s) early myoclonic encephalopathy
Corresponding gene GABRB2
Other symbol(s) EME
Main clinical features
  • neonatal onset of seizures and massive myoclonus accompanied by a continuous suppression-burst EEG pattern
  • Genetic determination not applicable
    Function/system disorder neurology
    Type disease
    Remark(s)