Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 09-11-2016
Symbol EEOC2
Location 14q23.3
Name epileptic encephalopathy, childhood onset 2
Corresponding gene GPHN
Main clinical features
  • epileptic encephalopathy resembling Dravet syndrome
  • generalized tonic–clonic seizures, myoclonic seizures, right or left hemiclonic seizures, atypical absences with fever or not in infancy
  • severe intellectual disability (ID)
  • Genetic determination not applicable
    Related entries including also idiopathic generalized epilepsy (IGE)
    Function/system disorder neurology
    Type disease
    Remark(s) . missense mutation that affects both functions of gephyrin, suggesting that the identified defect at GABAergic synapses is the mechanism underlying the patient's severe phenotype (PMID: 26613940))