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Metadata
ID DOID:0112214
Name developmental and epileptic encephalopathy 78
Definition A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of refractory seizures followed by severely impaired intellectual development that has_material_basis_in heterozygous mutation in GABRA2 on chromosome 4p12.
https://pubmed.ncbi.nlm.nih.gov/29422393/, https://pubmed.ncbi.nlm.nih.gov/29961870/
Xrefs

OMIM:618557

Synonyms

DEE78 [EXACT]

early infantile epileptic encephalopathy 78 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal dominant disease

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