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GENATLAS PHENOTYPE

last update : 17-11-2016

Symbol	EIEE41
Location	11p13
Name	epileptic encephalopathy, early infantile, 41
Corresponding gene	SLC1A2
Main clinical features	extremely severe phenotype, with onset of multiple seizure types in the first week of life followed by profound developmental impairment without detectable regression brain imaging showed extreme atrophy (frontal) with absence of myelination of the cerebrum and thin corpus callosum, but normal cerebellum EEG showed multifocal abnormal activity.
Genetic determination	not applicable
Function/system disorder	neurology
Type	disease

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