| Metadata | |
|---|---|
| ID | DOID:0051085 |
| PURL | http://purl.obolibrary.org/obo/DOID_0051085 Copy |
| Name | developmental and epileptic encephalopathy 113 |
| Definition | A developmental and epileptic encephalopathy that is characterized by severe early-onset recurrent epilepsy, which is worsened by treatment with levetiracetam and that has_material_basis_in homozygous mutation in the SV2A gene on chromosome 1q21. https://pubmed.ncbi.nlm.nih.gov/37985816/ |
| Xrefs | |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |