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GENATLAS PHENOTYPE

last update : 22-05-2017

Symbol	EIEE94
Location	6p25.1
Name	epileptic encephalopathy, early infantile, 94
Corresponding gene	FARS2
Main clinical features	intractable seizures that started at the age of 3 and 4 months; seizure types were variable, including infantile spasms and myoclonic seizures, and often prolonged although their initial development seemed to be normal, relentless regression after seizure onset occurred in all patients
Genetic determination	not applicable
Function/system disorder	neurology
Type	disease

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