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GENATLAS PHENOTYPE

last update : 20-05-2024

Symbol	DEE99
Location	19q13.2
Name	developmental and epileptic encephalopathy 99
Corresponding gene	ATP1A3
Main clinical features	onset of seizures in early childhood associated with global developmental delay and severely impaired intellectual development; also onset of seizures in early childhood associated with severely impaired intellectual development. associated with hypotonia, quadriparesis, nystagmus, and apnea brain imaging may be normal or show nonspecific and variable abnormalities, including cerebral atrophy and polymicrogyria
Genetic determination	autosomal dominant
Function/system disorder	mental retardation
	neurology
Type	disease

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