Search Ontology:
Human Disease
developmental and epileptic encephalopathy 113
- Term ID
- DOID:0051085
- Synonyms
-
- 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/
- References
- Ontology
- Human Disease ( DOID:0051085 )
Other Pages
Genes Involved
Zebrafish Models