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GENATLAS PHENOTYPE

last update : 05-01-2015

Symbol	EIEE5
Location	9q34.11
Name	epileptic encephalopathy, early infantile, 5
Corresponding gene	SPTAN1
Main clinical features	early onset of tonic spasms, seizure intractability, a characteristic suppression-burst pattern on the electroencephalogram (EEG) and poor outcome with severe psychomotor retardation profound mental retardation with lack of visual attention and speech development, as well as spastic quadriplegia brain MRI showed diffuse hypomyelination and widespread brain atrophy affecting the cortex, corpus callosum, brainstem, pontocerebellar atrophy, and progressive microcephaly
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

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