| Term Name: | developmental and epileptic encephalopathy 7 |
|---|---|
| Synonyms: | early infantile epileptic encephalopathy 7, KCNQ2-related epileptic encephalopathy, KCNQ2-related neonatal epileptic encephalopathy |
| Definition: | A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurological development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the KCNQ2 gene on chromosome 20q13. |
| Ontology: | Human Disease [DOID:0080462] ( DOID:0080462 ) |