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Browse result for Dravet syndrome
※ introduction 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.
Reference
DiseaseOntology: Dravet syndrome
Reference
DiseaseOntology: Dravet syndrome
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD01090 | P35498 | 6323 | SCN1A | Sodium channel protein type 1 subunit alpha | Homo sapiens |
