| Metadata | |
|---|---|
| ID | DOID:0060475 |
| Name | myoclonic-atonic epilepsy |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/24207121, https://www.ncbi.nlm.nih.gov/pubmed/23708187, https://www.ncbi.nlm.nih.gov/books/NBK589173/ |
| Xrefs | |
| Synonyms |
childhood onset epileptic encephalopathy [EXACT] EEOC [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
existence starts during some Childhood onset has material basis in some autosomal dominant inheritance |