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GENATLAS PHENOTYPE

last update : 14-03-2012

Symbol	EIEE13
Location	12q13.1
Name	Epileptic encephalopathy, early infantile 13
Other name(s)	infantile epileptic encephalopathy and sudden unexplained death
Corresponding gene	SCN8A
Other symbol(s)	IEED
Main clinical features	severe epileptic encephalopathy consisting of early-onset seizures, features of autism, intellectual disability, ataxia, and sudden unexplained death in epilepsy
Genetic determination	not applicable
Function/system disorder	neurology
Type	disease

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