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developmental and epileptic encephalopathy 6B
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0070379
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P35498 | Sodium channel protein type 1 subunit alpha |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001298 | Encephalopathy |
| HP:0001249 | Intellectual disability |
| HP:0001337 | Tremor |
| HP:0001263 | Global developmental delay |
| HP:0002059 | Cerebral atrophy |
| HP:0001290 | Generalized hypotonia |
| HP:0002133 | Status epilepticus |
| HP:0001268 | Mental deterioration |
| HP:0001558 | Decreased fetal movement |
| HP:0001251 | Ataxia |
