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GENATLAS PHENOTYPE

last update : 18-11-2016

Symbol	EIEE43
Location	15q12
Name	epileptic encephalopathy, early infantile, 43
Corresponding gene	GABRB3
Main clinical features	onset of multiple seizure types within the first year of life, including absence, myoclonic, and generalized tonic-clonic seizures with global developmental delay and behavioral abnormalities mild to profound intellectual disability EEG showed multiple variable abnormalities, including generalized spike-wave discharges, background slowing, and hypsarrhythmia
Genetic determination	autosomal dominant
Function/system disorder	mental retardation
Type	disease

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