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GENATLAS PHENOTYPE

last update : 18-12-2018

Symbol	EIEE63
Location	4p16.3
Name	epileptic encephalopathy, early infantile, 63
Corresponding gene	CPLX1
Main clinical features	seizures in the first weeks or months of life, which manifested predominantly as migrating or progressive myoclonic epilepsy, but also included tonic and generalized seizures,refractory to medication EEG showed hyperexcitability with generalized spikes mild dysmorphic features, including hypertelorism, bowed eyebrows, flat midface, long philtrum, thin upper lip
Genetic determination	autosomal recessive
Function/system disorder	mental retardation
	neurology
Type	disease

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