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GENATLAS PHENOTYPE

last update : 16-03-2018

Symbol	EIEE55
Location	21q22.13
Name	Epileptic encephalopathy, early infantile, 55
Corresponding gene	PIGP
Main clinical features	refractory seizures; EEG showed various abnormalities, including focal-spreading sharp waves, multifocal epileptiform discharges, slow background activity, and modified hypsarrhythmia hypotonia with fisted hands, clonus, and hyperreflexia, cortical visual impairment
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

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