Term Name: | developmental and epileptic encephalopathy 7 |
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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 ) |