Juvenile absence epilepsy
Synonyms: JAE
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial, Unknown
- Age of onset
- Adolescent
- Status
- active
Juvenile absence epilepsy (JAE) is a genetic epilepsy with onset occurring around puberty. JAE is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Juvenile absence epilepsy | JAE |
| fr | Epilepsie-absence juvénile | EAJ |
| de | Absencen-Epilepsie, juvenile | Epilepsia minor juvenilis |
| es | Epilepsia de ausencia juvenil | |
| it | Epilessia con assenze del giovane | |
| nl | Juveniele absence-epilepsie | = en |
| pt | Epilepsia de ausências juvenil | |
| pl | Młodzieńcza padaczka z napadami nieświadomości | = en |
| cs | Juvenilní absence | = en |
| uk | Ювенільна абсансна епілепсія | = en |
| zh | 青少年失神癫痫 | = en |
| tr | Jüvenil absans epilepsi | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607631 | E | validated | |
| ICD-10 | G40.3 | NTBT | attributed | validated |
| ICD-11 | 8A61.31 | E | specific | validated |
| MONDO | 0011876 | E | validated | |
| MONDO | 11876 | E | validated | |
| MONDO | 800453 | E | validated | |
| UMLS | C4317339 | E | validated | |
| GARD | 2162 | E | validated | |
| MedDRA | 10085031 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:699645Variable age-onset epilepsy syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EFHC1 | Major susceptibility factor in | Assessed | HGNC:16406 | ENSG00000096093 | 608815 | 6p12.2 | EF-hand domain containing 1 | 17159113[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 7.5 / 100 000 | Europe | Value and class | Validated | 8275976[PMID]_ORPHANET |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Validated | ORPHANET_Dr Gabrielle Rudolf[EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
13 annotations · validated 2024-03-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0002392 | EEG with polyspike wave complexes | |
| HP:0002197 | Generalized-onset seizure | |
| Frequent (79-30%) | ||
| HP:0000496 | Abnormality of eye movement | |
| HP:0000153 | Abnormality of the mouth | |
| HP:0002121 | Generalized non-motor (absence) seizure | |
| HP:0001336 | Myoclonus | |
| Occasional (29-5%) | ||
| HP:0100851 | Abnormal emotion/affect behavior | |
| HP:0000739 | Anxiety | |
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | |
| HP:0032794 | Myoclonic seizure | |
| HP:0001328 | Specific learning disability | |
| HP:0002133 | Status epilepticus | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 37714126[PMID]_32644481[PMID]_7964917[PMID]_16970883[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1941
- This record as JSON: /data/d/1941.json