ORPHA:307
Juvenile myoclonic epilepsy
Synonyms: JME · Juvenile myoclonus epilepsy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial
- Age of onset
- Adolescent, Childhood
- Status
- active
A rare epilepsy syndrome characterized by adolescence/young adulthood onset of myoclonic with or without other generalized seizure types in an otherwise healthy individual. The electroencephalogram (EEG) shows 3-5.5 Hz generalized spike-waves and polyspike-waves. Photosensitivity is common.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Juvenile myoclonic epilepsy | JME · Juvenile myoclonus epilepsy |
| fr | Epilepsie myoclonique juvénile | |
| de | Myoklonusepilepsie, juvenile | JME · Juvenile myoklonische Epilepsie |
| es | Epilepsia mioclónica juvenil | Epilepsia juvenil con mioclono · JME |
| it | Epilessia mioclonica giovanile | Epilessia giovaniale con mioclonie · JME |
| nl | Juveniele myoclonische epilepsie | JME · Juveniele myoclonusepilepsie |
| pt | Epilepsia mioclónica juvenil | |
| pl | Młodzieńcza padaczka miokloniczna | JME |
| cs | Juvenilní myoklonická epilepsie | JME · Juvenilní myoklonie |
| uk | Ювенільна міоклонічна епілепсія | JME · Ювенільна міоклонусна епілепсія |
| zh | 青少年肌阵挛性癫痫 | 少年肌阵挛性癫痫 |
| tr | Jüvenil miyoklonik epilepsi | JME · jüvenil miyoklonus epilepsisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 254770 | E | validated | |
| OMIM | 604827 | NTBT | validated | |
| OMIM | 607628 | NTBT | validated | |
| OMIM | 607682 | NTBT | validated | |
| OMIM | 608816 | BTNT | validated | |
| OMIM | 611136 | NTBT | validated | |
| OMIM | 611364 | BTNT | validated | |
| OMIM | 613060 | NTBT | validated | |
| OMIM | 614280 | BTNT | validated | |
| OMIM | 617924 | BTNT | validated | |
| ICD-10 | G40.3 | NTBT | attributed | validated |
| ICD-11 | 8A61.30 | E | specific | validated |
| MONDO | 0009696 | E | validated | |
| MeSH | D020190 | E | validated | |
| UMLS | C0270853 | E | validated | |
| GARD | 6808 | E | validated | |
| MedDRA | 10071082 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:98749Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect
rare genetic diseases - ORPHA:306759Non progressive epilepsy and/or ataxia with myoclonus as a major feature
rare genetic diseases; rare neurological diseases - ORPHA:699645Variable age-onset epilepsy syndrome
rare genetic diseases; rare neurological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:98123OBSOLETE: Channelopathy due to a neuronal kidney GABA receptor defect referred to · inactive
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Genes
8 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| JRK | Candidate gene tested in | Not yet assessed | HGNC:6199 | ENSG00000234616 | 603210 | 8q24.3 | Jrk helix-turn-helix protein | 11463517[PMID] |
| CACNB4 | Major susceptibility factor in | Assessed | HGNC:1404 | ENSG00000182389 | 601949 | 2q23.3 | calcium voltage-gated channel auxiliary subunit beta 4 | 23756480[PMID] |
| CILK1 | Major susceptibility factor in | Assessed | HGNC:21219 | ENSG00000112144 | 612325 | 6p12.1 | ciliogenesis associated kinase 1 | 29539279[PMID] |
| CLCN2 | Major susceptibility factor in | Assessed | HGNC:2020 | ENSG00000114859 | 600570 | 3q27.1 | chloride voltage-gated channel 2 | 12612585[PMID]_19191339[PMID]_23756480[PMID] |
| EFHC1 | Major susceptibility factor in | Assessed | HGNC:16406 | ENSG00000096093 | 608815 | 6p12.2 | EF-hand domain containing 1 | 23756480[PMID] |
| GABRA1 | Major susceptibility factor in | Assessed | HGNC:4075 | ENSG00000022355 | 137160 | 5q34 | gamma-aminobutyric acid type A receptor subunit alpha1 | 23756480[PMID] |
| GABRD | Major susceptibility factor in | Assessed | HGNC:4084 | ENSG00000187730 | 137163 | 1p36.33 | gamma-aminobutyric acid type A receptor subunit delta | 23756480[PMID] |
| KCNQ3 | Major susceptibility factor in | Assessed | HGNC:6297 | ENSG00000184156 | 602232 | 8q24.22 | potassium voltage-gated channel subfamily Q member 3 | 12928862[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Point prevalence | 1-9 / 100 000 | 1.7 / 100 000 | Norway | Value and class | Validated | 27861775[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
11 annotations · validated 2017-02-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002392 | EEG with polyspike wave complexes | |
| HP:0002197 | Generalized-onset seizure | |
| HP:0007000 | Morning myoclonic jerks | |
| Frequent (79-30%) | ||
| HP:0000496 | Abnormality of eye movement | |
| HP:0000153 | Abnormality of the mouth | |
| Occasional (29-5%) | ||
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | |
| HP:0002121 | Generalized non-motor (absence) seizure | |
| HP:0007207 | Photosensitive tonic-clonic seizures | |
| Very rare (<4-1%) | ||
| HP:0000718 | Aggressive behavior | |
| HP:0002133 | Status epilepticus | |
| Excluded (0%) | ||
| HP:0001249 | Intellectual disability | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 10648364[PMID]_3140737[PMID]_8503795[PMID]_9259280[PMID]_1638202[PMID]_1619419[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/307
- This record as JSON: /data/d/307.json