| Metadata | |
|---|---|
| ID | DOID:0080416 |
| Name | developmental and epileptic encephalopathy 32 |
| Definition | A developmental and epileptic encephalopathy characterized by seizure onset between 5 and 17 months of age resulting in residual neurologic deficits; in some patients seizures may remit or respond to drug treatment, and that has_material_basis_in heterozygous mutation in the KCNA2 gene on chromosome 1p13. https://www.ncbi.nlm.nih.gov/pubmed/25751627 |
| Xrefs | |
| Synonyms |
DEE32 [EXACT] early infantile epileptic encephalopathy 32 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |