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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 the GABRA2 gene on chromosome 4p12. https://pubmed.ncbi.nlm.nih.gov/29422393/, https://pubmed.ncbi.nlm.nih.gov/29961870/
Xrefs	MIM:618557
Synonyms	DEE78 [EXACT] early infantile epileptic encephalopathy 78 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal dominant disease