developmental and epileptic encephalopathy 52 (DOID:0080455)
Alliance: disease page
Synonyms: DEE52; early infantile epileptic encephalopathy 52
Alt IDs: OMIM:617350
Definition: 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.