| Term Name: | developmental and epileptic encephalopathy 6B |
|---|---|
| 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. |
| Ontology: | Human Disease [DOID:0070379] ( DOID:0070379 ) |