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GENATLAS PHENOTYPE
last update : 02-04-2013
Symbol EIEE14
Location 9q34.3
Name epileptic encephalopathy, early infantile, 14
Other name(s)
  • malignant migrating partial seizures of infancy'
  • epilepsy of infancy with migrating focal seizures
    • Corresponding gene KCNT1
    Other symbol(s) MMPSI, EIFMS
    Main clinical features
  • severe neurologic disorder characterized by onset in the first 6 months of life of refractory focal seizures and arrest of psychomotor development
  • ictal EEG shows discharges that arise randomly from various areas of both hemispheres and migrate from one brain region to another
    • Genetic determination not applicable
    Function/system disorder neurology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/gain of function  
    Remark(s) . mutation is reversed by quinidine (PMID: 24591078))