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Metadata
ID DOID:0070385
Name developmental and epileptic encephalopathy 99
Definition A developmental and epileptic encephalopathy characterized by onset of seizures in early childhood that has_material_basis_in heterozygous mutation in the ATP1A3 gene on chromosome 19q13.
https://pubmed.ncbi.nlm.nih.gov/33880529/
Xrefs

MIM:619606

Synonyms

DEE99 [EXACT]

early infantile epileptic encephalopathy 99 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal dominant disease

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