Term Name: | developmental and epileptic encephalopathy 98 |
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Synonyms: | DEE98, early infantile epileptic encephalopathy 98 |
Definition: | A developmental and epileptic encephalopathy characterized by onset of seizures in the first decade associated with variable global developmental delay that has_material_basis_in heterozygous mutation in the ATP1A2 gene on chromosome 1q23. |
Ontology: | Human Disease [DOID:0070384] ( DOID:0070384 ) |