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GENATLAS PHENOTYPE

last update : 20-03-2024

Symbol	DEE98
Location	1q23.2
Name	developmental and epileptic encephalopathy 98
Corresponding gene	ATP1A2
Main clinical features	onset of seizures in the first decade, associated with variable global developmental delay; also hypotonia, spasticity, and quadriparesis brain imaging may be normal or show nonspecific and variable abnormalities, including polymicrogyria. . severity is variable; some patients may die of refractory status epilepticus
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

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