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myoclonic-atonic epilepsy
Summary
- Synonym
-
- EEOC
- childhood onset epileptic encephalopathy
- Definition
- An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has_material_basis_in heterozygous mutation in the SLC6A1 gene on chromosome 3p25.
- Super Class
- autosomal dominant disease idiopathic generalized epilepsy
External Links
- Disease Ontology
- DOID:0060475
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1106 | CHD2 | chromodomain helicase DNA binding protein 2 | |
| 1468 | SLC25A10 | solute carrier family 25 member 10 | |
| 2332 | FMR1 | fragile X messenger ribonucleoprotein 1 | |
| 6091 | ROBO1 | roundabout guidance receptor 1 | |
| 6092 | ROBO2 | roundabout guidance receptor 2 | |
| 6529 | SLC6A1 | solute carrier family 6 member 1 | |
| 7407 | VARS1 | valyl-tRNA synthetase 1 | |
| 64221 | ROBO3 | roundabout guidance receptor 3 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 19649 | Robo3 | roundabout guidance receptor 3 | |
| 19876 | Robo1 | roundabout guidance receptor 1 | |
| 22321 | Vars1 | valyl-tRNA synthetase 1 | |
| 27376 | Slc25a10 | solute carrier family 25 (mitochondrial carrier, dicarboxylate transporter), member 10 | |
| 232333 | Slc6a1 | solute carrier family 6 (neurotransmitter transporter, GABA), member 1 | |
| 268902 | Robo2 | roundabout guidance receptor 2 |
