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GENATLAS PHENOTYPE

last update : 18-11-2013

Symbol	EIEE7
Location	20q13.33
Name	epileptic encephalopathy, early infantile, 7
Corresponding gene	KCNQ2
Main clinical features	infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities EEG initially shows a burst suppression pattern and later evolves to multifocal epileptiform activity; brain imaging may show lesions in the basal ganglia. seizures usually remit by age 3 or 4 years, with improvement of EEG abnormalities and possibly brain imaging abnormalities, but the severe neurologic deficits and mental retardation persist
Genetic determination	autosomal dominant
Function/system disorder	neurology
	mental retardation
Type	disease

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