| Metadata | |
|---|---|
| ID | DOID:0080462 |
| Name | developmental and epileptic encephalopathy 7 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/15249611 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
early infantile epileptic encephalopathy 7 [EXACT] KCNQ2-related epileptic encephalopathy [EXACT] KCNQ2-related neonatal epileptic encephalopathy [EXACT] |
| Parent Relationships |