ORPHA:166409
Photosensitive occipital lobe epilepsy
Synonyms: POLE
- Type
- Disease
- Group
- Disorder
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare epilepsy syndrome with onset in childhood and adolescence characterized by focal seizures involving the occipital lobe triggered by visual stimuli.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Photosensitive occipital lobe epilepsy | POLE |
| fr | Epilepsie occipitale photosensible | = en |
| de | Okzipitallappenepilepsie, photosensitive | POLE · Photosensitive okzipitale Epilepsie |
| es | Epilepsia occipital fotosensible | |
| it | Epilessia fotosensibile | |
| nl | Fotosensitieve epilepsie vanuit occipitale kwab | = en |
| pt | Epilepsia do lobo occipital fotossensitiva | = en |
| pl | Padaczka światłoczuła | = en |
| cs | Fotosenzitivní epilepsie | = en |
| uk | Фоточутлива епілепсія | |
| zh | 光敏性癫痫 | |
| tr | Fotosensitif epilepsi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 132100 | E | validated | |
| OMIM | 609572 | BTNT | validated | |
| OMIM | 609573 | BTNT | validated | |
| ICD-10 | G40.5 | NTBT | attributed | validated |
| ICD-11 | 8A61.40 | NTBT | index | validated |
| MONDO | 0015643 | E | validated | |
| UMLS | C0393720 | E | validated | |
| GARD | 5648 | 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 (2):
- ORPHA:310Reflex epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:726812Self limited focal childhood epilepsy
rare genetic diseases; rare neurological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 30 / 100 000 | Worldwide | Value and class | Validated | 27986877[PMID]_28532712[PMID]_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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/166409
- This record as JSON: /data/d/166409.json