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Metadata
ID DOID:0070384
Name developmental and 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.
https://pubmed.ncbi.nlm.nih.gov/33880529/
Xrefs

MIM:619605

Synonyms

DEE98 [EXACT]

early infantile epileptic encephalopathy 98 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal dominant disease

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