Term Name: | developmental and epileptic encephalopathy 52 |
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Synonyms: | DEE52, early infantile epileptic encephalopathy 52 |
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. |
Ontology: | Human Disease [DOID:0080455] ( DOID:0080455 ) |