Search Ontology:
Human Disease
developmental and epileptic encephalopathy 6B
- Term ID
- DOID:0070379
- Synonyms
-
- DEE6B
- Definition
- A developmental and epileptic encephalopathy characterized by early-infantile seizure onset, profoundly impaired intellectual development, and a hyperkinetic movement disorder that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24. This disease has the same genetic basis as Dravet syndrome (DOID:0080422) but is more severe. https://pubmed.ncbi.nlm.nih.gov/28794249/
- References
- Ontology
- Human Disease ( DOID:0070379 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models