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GENATLAS PHENOTYPE
last update : 18-12-2018
Symbol EIEE67
Location 12q24.11
Name epileptic encephalopathy, early infantile, 67
Corresponding gene CUX2
Main clinical features
  • onset of seizures within the first 7 months of life; seizure types varied, but included focal, myoclonic, absence and atypical absence, tonic, atonic, and generalized tonic-clonic
  • EEG was abnormal in all individuals, most frequently showing generalized spike-wave or polyspike-wave patterns, but focal discharges, multifocal discharges, hypsarrhythmia
  • moderate to severe intellectual disability and autism, absent language, hypersalivation
  • Genetic determination autosomal dominant
    Function/system disorder mental retardation
    neurology
    Type disease
    Remark(s)