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developmental and epileptic encephalopathy 5
Summary
- Synonym
-
- DEE5
- early infantile epileptic encephalopathy 5
- Definition
- A developmental and epileptic encephalopathy characterized by global developmental delay and onset in the first months of life of tonic seizures or infantile spasms that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34.
- Super Class
- autosomal dominant disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080438
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13813 | Spectrin alpha chain, non-erythrocytic 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002521 | Hypsarrhythmia |
| HP:0001336 | Myoclonus |
| HP:0012469 | Infantile spasms |
| HP:0000707 | Abnormality of the nervous system |
| HP:0011121 | Abnormal skin morphology |
| HP:0002376 | Developmental regression |
