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GENATLAS PHENOTYPE

last update : 22-09-2020

Symbol	EIEE79
Location	15q12
Name	epileptic encephalopathy, early infantile, 79
Corresponding gene	GABRA5
Main clinical features	severe neurologic disorder characterized by onset of refractory seizures in the first months of life severely impaired psychomotor development and hypotonia or spasticity brain imaging may show hypomyelination, cerebral atrophy, and thinning of the corpus callosum
Genetic determination
Function/system disorder	mental retardation
	neurology
Type	disease

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