Juvenile myoclonic epilepsy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 7 |
| OrphanetNr: | 307 |
| OMIM Id: |
254770
604827 607628 607682 608816 611136 611364 613060 614280 |
| ICD-10: |
G40.3 |
| UMLs: |
C0270853 |
| MeSH: |
D020190 |
| MedDRA: |
|
| Snomed: |
6204001 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant Autosomal recessive Multifactorial [Orphanet] |
| Age of onset: |
Adolescent [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Familial partial epilepsy
-Rare genetic disease -Rare neurologic disease Non progressive epilepsy and/or ataxia with myoclonus as a major feature -Rare genetic disease -Rare neurologic disease |
Symptom Information:
|
|
(HPO:0002069) | Generalized tonic-clonic seizures | 96 / 7739 | ||||
|
|
(HPO:0007000) | Morning myoclonic jerks | 2 / 7739 | ||||
|
|
(HPO:0002133) | Status epilepticus | 59 / 7739 | ||||
|
|
(HPO:0002121) | Absence seizures | 62 / 7739 | ||||
|
|
(HPO:0012001) | EEG with generalized polyspikes | 1 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|