ORPHA:64280
Childhood absence epilepsy
Synonyms: Pyknolepsy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Childhood
- Status
- active
An idiopathic generalized epilepsy characterized by the appearance in an otherwise healthy child of multiple per day typical absence seizures. Epilepsy remits in the majority of children, at later by early adolescence.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Childhood absence epilepsy | Pyknolepsy |
| fr | Epilepsie-absence de l'enfance | Pycnolepsie |
| de | Absencen-Epilepsie des Kindesalters | Pyknolepsie |
| es | Epilepsia de ausencia infantil | Picnolepsia |
| it | Epilessia con assenze dell'infanzia | |
| nl | Absence-epilepsie in de kindertijd | Pyknolepsie |
| pt | Epilepsia de ausências infantil | |
| pl | Dziecięca padaczka nieświadomości | Piknolepsja |
| cs | Dětská epilepsie s absencemi | Pyknolepsie |
| uk | Дитяча абсансна епілепсія | Пікнолепсія |
| zh | 儿童失神癫痫 | 癫痫小发作 |
| tr | Çocukluk çağı absans epilepsisi | Piknolepsi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600131 | E | validated | |
| OMIM | 607681 | BTNT | validated | |
| OMIM | 611136 | NTBT | validated | |
| OMIM | 611942 | BTNT | validated | |
| OMIM | 612269 | BTNT | validated | |
| ICD-10 | G40.3 | NTBT | inclusion | validated |
| ICD-11 | 8A61.21 | E | specific | validated |
| MONDO | 0010826 | E | validated | |
| UMLS | C4281785 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:98259Childhood-onset epilepsy syndrome
rare genetic diseases; rare neurological diseases - ORPHA:98749Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect
rare genetic diseases - ORPHA:98745Neurological channelopathy of the central nervous system due to a genetic calcium channel defect
rare genetic diseases
No children.
4
Genes
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CACNA1H | Candidate gene tested in | Not yet assessed | HGNC:1395 | ENSG00000196557 | 607904 | 16p13.3 | calcium voltage-gated channel subunit alpha1 H | 12891677[PMID] |
| GABRA1 | Candidate gene tested in | Not yet assessed | HGNC:4075 | ENSG00000022355 | 137160 | 5q34 | gamma-aminobutyric acid type A receptor subunit alpha1 | 16718694[PMID] |
| GABRG2 | Candidate gene tested in | Not yet assessed | HGNC:4087 | ENSG00000113327 | 137164 | 5q34 | gamma-aminobutyric acid type A receptor subunit gamma2 | |
| JRK | Candidate gene tested in | Not yet assessed | HGNC:6199 | ENSG00000234616 | 603210 | 8q24.3 | Jrk helix-turn-helix protein | 11463517[PMID] |
| GABRB3 | Major susceptibility factor in | Assessed | HGNC:4083 | ENSG00000166206 | 137192 | 15q12 | gamma-aminobutyric acid type A receptor subunit beta3 | 18514161[PMID]_20550555[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 5 / 100 000 | United States | Value and class | Validated | 24668022[PMID] |
| Point prevalence | Unknown | — | Europe | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
21 annotations · validated 2019-05-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010848 | EEG with spike-wave complexes (2.5-3.5 Hz) | |
| HP:0011147 | Typical absence seizure | |
| Frequent (79-30%) | ||
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000980 | Pallor | |
| Occasional (29-5%) | ||
| HP:0012433 | Abnormal social behavior | |
| HP:0000739 | Anxiety | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0000716 | Depression | |
| HP:0010522 | Dyslexia | |
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | |
| HP:0002883 | Hyperventilation | |
| HP:0010794 | Impaired visuospatial constructive cognition | |
| HP:0001249 | Intellectual disability | |
| HP:0031469 | Low self esteem | |
| HP:0011150 | Myoclonic absence | |
| HP:0030218 | Punding | |
| HP:0001328 | Specific learning disability | |
| HP:0007738 | Uncontrolled eye movements | |
| Very rare (<4-1%) | ||
| HP:0006961 | Jerky head movements | |
| HP:0045084 | Limb myoclonus | |
| HP:0000020 | Urinary incontinence | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 24530152[PMID]_27683026[PMID]_11326275[PMID]_2502382[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/64280
- This record as JSON: /data/d/64280.json