{"orpha":166409,"name":"Photosensitive occipital lobe epilepsy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["POLE"],"definition":"A rare epilepsy syndrome with onset in childhood and adolescence characterized by focal seizures involving the occipital lobe triggered by visual stimuli.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-166409/","orphanet_url":"https://www.orpha.net/en/disease/detail/166409","names":{"fr":{"name":"Epilepsie occipitale photosensible","synonyms":["POLE"],"definition":"Syndrome épileptique rare apparaissant pendant l'enfance et l'adolescence, caractérisé par des crises focales déclenchées par des stimuli visuels, impliquant le lobe occipital."},"de":{"name":"Okzipitallappenepilepsie, photosensitive","synonyms":["POLE","Photosensitive okzipitale Epilepsie"],"definition":"Ein seltenes Epilepsiesyndrom mit Beginn im Kindes- und Jugendalter, das durch fokale Anfälle mit Beteiligung des Okzipitallappens gekennzeichnet ist, die durch visuelle Reize ausgelöst werden."},"es":{"name":"Epilepsia occipital fotosensible","definition":"Es un síndrome epiléptico poco frecuente de inicio en la infancia o la adolescencia caracterizado por crisis focales que afectan al lóbulo occipital y que están desencadenadas por estímulos visuales."},"it":{"name":"Epilessia fotosensibile","definition":"Si tratta di un'epilessia riflessa rara, caratterizzata da crisi epilettiche e risposte fotoparossistiche scatenate da luci lampeggianti o intermittenti. La natura dello stimolo e la tipologia delle crisi sono variabili. La malattia esordisce per lo più nell'infanzia e nell'adolescenza, e può essere isolata oppure associarsi ad altre epilessie."},"nl":{"name":"Fotosensitieve epilepsie vanuit occipitale kwab","synonyms":["POLE"],"definition":"Een zeldzaam epilepsiesyndroom met aanvang in de kindertijd en adolescentie, gekenmerkt door focale insulten met betrokkenheid van de occipitaalkwab, uitgelokt door visuele stimuli."},"pt":{"name":"Epilepsia do lobo occipital fotossensitiva","synonyms":["POLE"]},"pl":{"name":"Padaczka światłoczuła","synonyms":["POLE"],"definition":"Rzadka padaczka odruchowa, która charakteryzuje się drgawkami i reakcjami wywołanymi przez bodźce świetlne o charakterze migających lub migoczącymi świateł lub wzorów. Dokładny charakter bodźca i rodzaj napadu są zmienne. Choroba objawia się głównie w okresie dzieciństwa i dojrzewania. Może występować jako stan izolowany lub w powiązaniu z innymi zespołami padaczkowymi."},"cs":{"name":"Fotosenzitivní epilepsie","synonyms":["POLE"]},"uk":{"name":"Фоточутлива епілепсія","definition":"A rare reflex epilepsy characterized by seizures and photoparoxysmal responses triggered by flashing or flickering lights, or patterns. Exact nature of the stimulus and seizure type are variable. The disorder mainly presents in childhood and adolescence and can either occur as an isolated condition, or be associated to other epilepsy syndromes."},"zh":{"name":"光敏性癫痫","definition":"一种罕见的反射性癫痫，其特征是由闪光或灯光闪烁或图案引起的惊厥和光阵发性反应。刺激物的确切性质和惊厥类型是可变的。该疾病主要出现在儿童和青春期，既可能孤立发生，也可能与其他癫痫综合征相关。"},"tr":{"name":"Fotosensitif epilepsi"}},"xrefs":[{"source":"OMIM","code":"132100","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"609572","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609573","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A61.40","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"946957931"},{"source":"MONDO","code":"0015643","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0393720","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5648","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":310,"name":"Reflex epilepsy","classifications":[156,181]},{"orpha":726812,"name":"Self limited focal childhood epilepsy","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":30.0,"area":"Worldwide","status":"Validated","source":"27986877[PMID]_28532712[PMID]_ORPHANET"}],"phenotypes":null}