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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
generalized epilepsy with febrile seizures plus 2
Summary
- Synonym
-
- GEFS+2
- GEFSP2
- generalised epilepsy with febrile seizures plus 2
- generalised epilepsy with febrile seizures plus type 2
- generalized epilepsy with febrile seizures plus type 2
- Definition
- A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN1A on chromosome 2q24.3.
- Super Class
- generalized epilepsy with febrile seizures plus
External Links
- Disease Ontology
- DOID:0111294
- Mondo Disease Ontology
- OMIM
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 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001763 | Pes planus |
| HP:0011151 | Atypical absence status epilepticus |
| HP:0002123 | Generalized myoclonic seizure |
| HP:0003066 | Limited knee extension |
| HP:0000729 | Autistic behavior |
| HP:0002311 | Incoordination |
| HP:0007058 | Generalized cerebral atrophy/hypoplasia |
| HP:0001337 | Tremor |
| HP:0010850 | EEG with spike-wave complexes |
| HP:0002121 | Generalized non-motor (absence) seizure |
