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GENATLAS PHENOTYPE

last update : 12-04-2019

Symbol	EIEE71
Location	2q32.2
Name	epileptic encephalopathy, early infantile, 71
Corresponding gene	GLS
Main clinical features	severe hypotonia and respiratory insufficiency requiring mechanical ventilation; early-onset refractory seizures associated with a burst-suppression pattern on EEG brain imaging showed a simplified frontal gyral pattern with an anterior-to-posterior gradient and deep and subcortical white matter involvement early death
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

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