"A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures and global neurological development delay, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCN1B gene on chromosome 19q13."^^ . "OMIM:617350"^^ . "disease_ontology"^^ . _:vb50940980 . "early infantile epileptic encephalopathy 52"^^ . _:vb50940980 . "DOID:0080455"^^ . "DEE52"^^ . "developmental and epileptic encephalopathy 52"^^ . . . . . _:vb50940980 . _:vb50940980 . _:vb50940980 .