eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | epilepsy, progressive myoclonic 1a |
| Comorbidity | C0751778|progressive myoclonus epilepsy |
| Sentences | 3 |
| PubMedID- 24013380 | Mutations in the cystatin b gene, coding the protein human stefin b, are the cause for progressive myoclonus epilepsy of type 1 (epm1), known as unverricht-lundborg disease [14–16]. |
| PubMedID- 22936898 | Pmes can be divided pathogenetically into two groups: non lysosome-related, such as lafora disease, and lysosome-related, such as unverricht-lundborg disease progressive myoclonus epilepsy of type one (epm1), the most common of all pmes and the subject of our research. |
| PubMedID- 24586687 | progressive myoclonus epilepsy of unverricht-lundborg type (epm1, omim 254800) is an autosomal recessively inherited neurodegenerative disease characterized by stimulus-sensitive myoclonus, tonic-clonic seizures and ataxia with the disease onset at 6–16 years of age [1]. |
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