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GENATLAS PHENOTYPE

last update : 16-09-2020

Symbol	EIEE78
Location	4p12
Name	epileptic encephalopathy, early infantile, 78
Corresponding gene	GABRA2
Main clinical features	severe neurologic disorder characterized by onset of refractory seizures in the first days or months of life followed by severely impaired intellectual development additional features may include cortical visual impairment, hypotonia, and abnormal movements, such as spasticity
Genetic determination	autosomal dominant
Function/system disorder	mental retardation
	neurology
Type	disease

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