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developmental and epileptic encephalopathy 62
Summary
- Synonym
-
- DEE62
- early infantile epileptic encephalopathy 62
- Definition
- A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first weeks or months of life, severe to profound developmental delay, hypotonia, and impaired motor and cognitive development that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24.
- Super Class
- autosomal dominant disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080420
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9NY46 | Sodium channel protein type 3 subunit alpha |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000252 | Microcephaly |
| HP:0000348 | High forehead |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000504 | Abnormality of vision |
| HP:0000508 | Ptosis |
| HP:0000546 | Retinal degeneration |
| HP:0000639 | Nystagmus |
| HP:0000648 | Optic atrophy |
| HP:0000668 | Hypodontia |
| HP:0000708 | Atypical behavior |
