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GENATLAS PHENOTYPE

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))