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Metadata
ID	DOID:0080445
Name	developmental and epileptic encephalopathy 13
Definition	A developmental and epileptic encephalopathy characterized by onset of intractable seizures in the first year of life with impaired development or developmental regression after seizure onset that has_material_basis_in heterozygous mutation in the SCN8A gene on chromosome 12q13. https://pubmed.ncbi.nlm.nih.gov/24888894/, https://www.ncbi.nlm.nih.gov/pubmed/22365152
Xrefs	OMIM:614558
Synonyms	DEE13 [EXACT] early infantile epileptic encephalopathy 13 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal dominant disease