Search Ontology:
Human Disease
developmental and epileptic encephalopathy 114
- Term ID
- DOID:0051086
- Synonyms
-
- Definition
- A developmental and epileptic encephalopathy that is characterized by moderately to severely impaired intellectual development, onset of epilepsy within the first 18 months of life, and a choreiform, dystonic, or dyskinetic movement disorder and that has_material_basis_in heterozygous mutation in the SLC32A1 gene on chromosome 20q11. https://pubmed.ncbi.nlm.nih.gov/36073542/
- References
- Ontology
- Human Disease ( DOID:0051086 )
Other Pages
Genes Involved
Zebrafish Models