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GENATLAS PHENOTYPE

last update : 16-11-2022

Symbol	EIEE59
Location	9q22.33
Name	epileptic encephalopathy, early infantile 59
Other name(s)	Developmental and epileptic encephalopathy
Corresponding gene	GABBR2
Other symbol(s)	DEE59
Main clinical features	severe global developmental delay apparent in infancy with onset of various types of seizures in the first months of life; seizures are usually refractory and are often associated with hypsarrhythmia on EEG, although brain imaging is usually normal more severely affected individuals may be unable to speak or walk, have poor interaction, and require a feeding tube
Genetic determination	autosomal recessive
Function/system disorder	mental retardation
	neurology
Type	disease

Remark(s)