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GENATLAS PHENOTYPE
last update : 16-09-2020
Symbol EIEE77
Location 16p13.3
Name Epileptic encephalopathy, early infantile, 77
Corresponding gene PIGQ
Main clinical features
  • neurologic disorder characterized by onset of refractory seizures in the first months of life; severe global developmental delay, and additional variable features, including dysmorphic or coarse facial features, visual defects, and mild skeletal or renal anomalies
  • seizure onset occurred between 2.5 months and 7 months of age and varied from treatable seizures to recurrent episodes of status epilepticus (PMID: 32588908))
  • skeletal findings in this disorder expand the differential diagnosis of long bone radiolucent lesions and sphenoid wing dysplasia
  • Genetic determination autosomal recessive
    Function/system disorder mental retardation
    osteo-articular
    Type disease
    Remark(s)