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Metadata
ID	DOID:0080284
Name	developmental and epileptic encephalopathy 57
Definition	A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of refractory multifocal seizures, global developmental delay with hypotonia, variably impaired intellectual development, and poor or absent language that has_material_basis_in heterozygous mutation in the KCNT2 gene on chromosome 1q31. https://pubmed.ncbi.nlm.nih.gov/29740868/, https://pubmed.ncbi.nlm.nih.gov/32038177/, https://www.ncbi.nlm.nih.gov/pubmed/29069600
Xrefs	OMIM:617771
Synonyms	DEE57 [EXACT] early infantile epileptic encephalopathy 57 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal dominant disease