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GENATLAS PHENOTYPE
last update : 05-07-2016
Symbol EIEE34
Location 20q13.12
Name epileptic encephalopathy, early infantile, 34
Corresponding gene SLC12A5
Main clinical features
  • severe neurologic disorder characterized by onset of refractory migrating focal seizures in infancy, developmental regression and are severely impaired globally
  • focal seizures manifest as eye deviation, unresponsiveness, apnea, hemiclonic twitching, and tonic and atonic seizures; global developmental regression after onset of seizures, and the seizures were pharmacoresistant
  • EEG showed variable foci of epileptic activity as well as interictal diffuse slowing and multifocal spikes
  • Genetic determination autosomal recessive
    Function/system disorder mental retardation
    neurology
    Type disease
    Remark(s)