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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 generalized epilepsy
External Links
- Disease Ontology
- DOID:0060475
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P30531 | Sodium- and chloride-dependent GABA transporter 1 |
