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GENATLAS PHENOTYPE

last update : 18-11-2016

Symbol	EIEE42
Location	19p13.13
Name	epileptic encephalopathy, early infantile, 42
Corresponding gene	CACNA1A
Main clinical features	onset of myoclonic seizures soon after birth and thereafter showed severe intellectual disability; EEG showed generalized and poly-spike wave discharges and generalized background slowing other features included alternating esotropia, nystagmus, ataxic gait, contractures, hypotonia, and autistic feature delayed global development with moderate to severe intellectual disability
Genetic determination	not applicable
Function/system disorder	mental retardation
	neurology
Type	disease

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