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GENATLAS PHENOTYPE

last update : 23-09-2020

Symbol	EIEE74
Location	5q34
Name	epileptic encephalopathy, early infantile, 74
Other name(s)	Dravet syndrome severe myoclonic epilepsy of infancy
Corresponding gene	GABRG2
Other symbol(s)	SMEI1
Main clinical features	severe myoclonic epilepsy of infancy variable intractable seizure types occurred in the first year of life, and included tonic-clonic, tonic, partial with secondary generalization, febrile, and myoclonic severe global developmental delay with impaired intellectual development, absent speech, and severe hypotonia with motor disabilities additional features included roving or abnormal eye movements, such as nystagmus, and choreiform movements
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

Gene product

Name	gamma-aminobutyric acid (GABA) A receptor, gamma 2

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