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Dravet syndrome
Summary
- Synonym
-
- DEE6
- DEE6A
- developmental and epileptic encephalopathy 6
- developmental and epileptic encephalopathy 6A
- early infantile epileptic encephalopathy 6
- severe myoclonic epilepsy of infancy
- Definition
- A developmental and epileptic encephalopathy characterized by onset of seizures that are usually refractory to treatment in the first year of life after normal early development and impaired psychomoter development starting around the second year of life that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24.
- Super Class
- autosomal dominant disease developmental and epileptic encephalopathy
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P49419 | Alpha-aminoadipic semialdehyde dehydrogenase |
