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last update : 21-11-2020
Symbol EIEE47
Location 3q28
Name epileptic encephalopathy, early infantile, 47
Corresponding gene FGF12
Main clinical features
  • seizures developed into severe refractory epilepsy associated with EEG abnormalities, including severe background slowing, multifocal epileptic abnormalities, and hypsarrhythmia; followed by severely delayed psychomotor development with profound intellectual disability, inability to stand or walk, cerebral visual impairment, feeding difficulties necessitating tube feeding, and absent speech development;other features included acquired microcephaly, axial hypotonia, and limb ataxia, and early death
  • epilepsy is often intractable but responsiveness to phenytoin
  • progressive cerebellar atrophy, potentially as a result of excitotoxic damage (PMID: 33245860))
  • Genetic determination not applicable
    Function/system disorder mental retardation
    Type disease
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/gain of function