developmental and epileptic encephalopathy 13 (DOID:0080445)
Alliance: disease page
Synonyms: DEE13; early infantile epileptic encephalopathy 13
Alt IDs: OMIM:614558
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.