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GENATLAS PHENOTYPE

last update : 17-11-2016

Symbol	EIEE40
Location	4p12
Name	epileptic encephalopathy, early infantile, 40
Corresponding gene	GUF1
Main clinical features	onset of refractory seizures associated with hypsarrhythmia between 4 and 6 months of age onset of seizures was associated with psychomotor arrest and poor neurologic outcome, including poor or absent eye contact, hypotonia, spasticity, spastic tetraparesis and choreoathetosis brain imaging was normal at first, but later showed diffuse cortical atrophy
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

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