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GENATLAS PHENOTYPE

last update : 18-11-2013

Symbol	EIEE11
Location	2q24.3
Name	epileptic encephalopathy, early infantile, 11
Corresponding gene	SCN2A
Main clinical features	infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities, mental retardation convulsive and atonic seizures continued throughout childhood and were difficult to treat, with severe intellectual and psychomotor retardation but no paralysis; brain MRI showed moderate diffuse brain atrophy
Genetic determination	autosomal dominant
Function/system disorder	mental retardation
	neurology
Type	disease

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