Search Ontology:
Human Disease
developmental and epileptic encephalopathy 34
- Term ID
- DOID:0080460
- Synonyms
-
- DEE34
- early infantile epileptic encephalopathy 34
- Definition
- A developmental and epileptic encephalopathy characterized by infantile onset of refractory migrating focal seizures, developmental regression and severe global impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A5 gene on chromosome 20q12. https://www.ncbi.nlm.nih.gov/pubmed/26333769
- References
- Ontology
- Human Disease ( DOID:0080460 )
- is a type of
-
Show first 5 Terms
Other Pages
Genes Involved
Zebrafish Models