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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
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 6323 | SCN1A | sodium voltage-gated channel alpha subunit 1 | |
| 6326 | SCN2A | sodium voltage-gated channel alpha subunit 2 | |
| 6328 | SCN3A | sodium voltage-gated channel alpha subunit 3 | |
| 6329 | SCN4A | sodium voltage-gated channel alpha subunit 4 | |
| 6331 | SCN5A | sodium voltage-gated channel alpha subunit 5 | |
| 6332 | SCN7A | sodium voltage-gated channel alpha subunit 7 | |
| 6334 | SCN8A | sodium voltage-gated channel alpha subunit 8 | |
| 6335 | SCN9A | sodium voltage-gated channel alpha subunit 9 | |
| 6336 | SCN10A | sodium voltage-gated channel alpha subunit 10 | |
| 11280 | SCN11A | sodium voltage-gated channel alpha subunit 11 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 20264 | Scn10a | sodium channel, voltage-gated, type X, alpha | |
| 20265 | Scn1a | sodium channel, voltage-gated, type I, alpha | |
| 20269 | Scn3a | sodium channel, voltage-gated, type III, alpha | |
| 20271 | Scn5a | sodium channel, voltage-gated, type V, alpha | |
| 20272 | Scn7a | sodium channel, voltage-gated, type VII, alpha | |
| 20273 | Scn8a | sodium channel, voltage-gated, type VIII, alpha | |
| 24046 | Scn11a | sodium channel, voltage-gated, type XI, alpha | |
| 110876 | Scn2a | sodium channel, voltage-gated, type II, alpha | |
| 110880 | Scn4a | sodium channel, voltage-gated, type IV, alpha |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 24766 | Scn2a | sodium voltage-gated channel alpha subunit 2 | |
| 25665 | Scn5a | sodium voltage-gated channel alpha subunit 5 | |
| 25722 | Scn4a | sodium voltage-gated channel alpha subunit 4 | |
| 29571 | Scn10a | sodium voltage-gated channel alpha subunit 10 | |
| 29701 | Scn11a | sodium voltage-gated channel alpha subunit 11 | |
| 29710 | Scn8a | sodium voltage-gated channel alpha subunit 8 | |
| 78956 | Scn9a | sodium voltage-gated channel alpha subunit 9 | |
| 81574 | Scn1a | sodium voltage-gated channel alpha subunit 1 | |
| 497770 | Scn3a | sodium voltage-gated channel alpha subunit 3 |
