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GENATLAS PHENOTYPE

last update : 05-07-2016

Symbol	EIEE24
Location	5p12
Name	epileptic encephalopathy, early infantile, 24
Corresponding gene	HCN1
Main clinical features	onset of pharmacoresistant febrile seizures between 4 and 13 months of age; seizure type at onset tended to be tonic-clonic or hemiclonic but evolved into predominantly focal absence and myoclonic later in childhood intellectual disability of varying degrees, and most had behavioral disturbances or autistic features brain imaging was normal.
Genetic determination	not applicable
Function/system disorder	neurology
Type	disease

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