{"orpha":98816,"name":"Childhood occipital visual epilepsy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["COVE","Idiopathic chilldhood occipital epilepsy-Gastaut type","Late-onset benign childhood occipital epilepsy"],"definition":"A form of rare self-limited childhood occipital epilepsy characterized by seizures originating in the occipital lobe, often present with visual phenomena, occurring around 7-16 years. Seizures are typically characterized by sensory visual symptoms with elementary visual phenomena, such as flashing lights, visual distortions, eye deviation, or temporary blindness. Secondary generalized seizures may also occur. The severity and the frequency of the seizures vary among the patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98816/","orphanet_url":"https://www.orpha.net/en/disease/detail/98816","names":{"fr":{"name":"Epilepsie occipitale de l'enfant","synonyms":["Epilepsie occipitale bénigne à début tardif","COVE","Epilepsie occipitale bénigne type Gastaut"],"definition":"Forme rare d'épilepsie occipitale autolimitée de l'enfance, caractérisée par des crises provenant du lobe occipital, souvent accompagnées de phénomènes visuels, survenant entre l'âge de 7 et 16 ans. Les crises sont caractérisées typiquement par des symptômes visuels sensoriels, y compris des phénomènes visuels élémentaires, tels que des lumières clignotantes, des distorsions visuelles, une déviation du regard ou une cécité transitoire. Des crises secondaires généralisées peuvent également survenir. La gravité et la fréquence des crises varient suivant les patients."},"de":{"name":"Okzipitale visuelle Epilepsie im Kindesalter","synonyms":["COVE","Idiopathische kindliche okzipitale Epilepsie Typ Gastaut","Spät beginnende benigne okzipitale Epilepsie des Kindesalters"],"definition":"Eine seltene selbstlimitierende Epilepsieform im Kindesalter, die durch vom Okzipitallappen ausgehende Anfälle gekennzeichnet ist. Diese gehen häufig mit visuellen Phänomenen einher und treten im Alter von 7 bis 16 Jahren auf. Die Anfälle sind typischerweise durch sensorische visuelle Symptome mit elementaren visuellen Phänomenen wie blinkende Lichter, visuelle Verzerrungen, Augenabweichungen oder vorübergehende Blindheit gekennzeichnet. Sekundär generalisierte Anfälle können ebenfalls auftreten. Der Schweregrad und die Häufigkeit der Anfälle variieren von Patient zu Patient."},"es":{"name":"Epilepsia occipital visual de la infancia","synonyms":["COVE","Epilepsia occipital benigna de la infancia de inicio tardío","Epilepsia occipital idiopática de la infancia tipo Gastaut"],"definition":"Es una forma poco frecuente de epilepsia occipital infantil autolimitada caracterizada por crisis que se originan en el lóbulo occipital, a menudo acompañadas de fenómenos visuales, que aparecen alrededor de los 7-16 años. Las crisis se caracterizan típicamente por síntomas visuales sensitivos con fenómenos visuales elementales, como destellos de luz, distorsiones visuales, desviación ocular o ceguera temporal. También pueden presentarse crisis generalizadas secundarias. La gravedad y la frecuencia de las crisis varían entre pacientes."},"it":{"name":"Epilessia visiva occipitale dell'infanzia","synonyms":["Epilessia occipitale idiopatica dell'infanzia tipo Gastaut","COVE","Epilessia occipitale infantile benigna a esordio tardivo"],"definition":"L'epilessia occipitale infantile benigna tipo Gastaut è una malattia neurologica genetica rara, che esordisce nell'infanzia o durante l'adolescenza con crisi parziali semplici diurne frequenti e brevi, che di solito iniziano con allucinazioni visive (fosfeni) e/o cecità ictale, e possono associarsi a crisi non visive (come la deviazione degli occhi e le crisi oculocloniche), chiusura e battiti forzati delle palpebre ed allucinazioni sensoriali. È comune la cefalea post-ictale, mentre è rara la compromissione dello stato di coscienza."},"nl":{"name":"Occipitale visuele epilepsie in de kindertijd","synonyms":["COVE","Goedaardige occipitale epilepsie in de kindertijd met late aanvang","Goedaardige occipitale epilepsie in de kindertijd, Gastaut-type"],"definition":"Een vorm van zeldzame zelfbeperkende occipitale epilepsie in de kindertijd, gekenmerkt door insulten die ontstaan in de occipitaalkwab, zich vaak presenteren met visuele fenomenen, en optreden rond de leeftijd van 7-16 jaar. Insulten worden doorgaans gekenmerkt door sensorische visuele symptomen met elementaire visuele fenomenen, zoals flitsende lichten, beeldvertekening (metamorfopsie), oogdeviatie, of tijdelijke blindheid. Secundaire gegeneraliseerde insulten kunnen ook voorkomen. De ernst en de frequentie van de insulten variëren tussen de patiënten."},"pt":{"name":"Epilepsia visual occipital da infância","synonyms":["COVE","Epilepsia ocipital benigna da infância de início tardio","Epilepsia ocipital benigna da infância, tipo Gastaut"]},"pl":{"name":"Łagodna dziecięca padaczka potyliczna typu Gastauta","synonyms":["Łagodna dziecięca padaczka potyliczna, typ Gestauta"]},"cs":{"name":"Benigní dětská okcipitální epilepsie, Gastautův typ","synonyms":["Benigní dětská okcipitální epilepsie s pozdním nástupem"]},"uk":{"name":"Доброякісна дитяча потилична епілепсія, тип Гасто","synonyms":["Пізня доброякісна дитяча потилична епілепсія з пізнім початком"],"definition":"Benign childhood occipital epilepsy, Gastaut type is a rare, genetic neurological disorder characterized by childhood to mid-adolescence onset of frequent, brief, diurnal simple partial seizures which usually begin with visual hallucinations (e.g. phosphenes) and/or ictal blindness and may associate non visual seizures (such as deviation of the eyes, oculoclonic seizures), forced eyelid closure and blinking and sensory hallucinations. Post-ictal headache is common while impairment of consciousness is rare."},"zh":{"name":"儿童良性枕叶癫痫Gastaut型","synonyms":["晚发性儿童良性枕叶癫痫"],"definition":"Gastaut型良性儿童枕叶癫痫是一种罕见的遗传性神经疾病，其特征是儿童至青春期中期频繁发作、短暂的日间单纯部分性癫痫，通常始于视觉幻觉(如荧光灯)和/或发作性失明，可能与非视觉癫痫(如眼睛偏斜、眼阵挛发作)、强迫眼睑闭合、眨眼和感觉性幻觉有关。发作后头痛常见，意识障碍罕见。"},"tr":{"name":"Selim çocukluk çağı oksipital epilepsi, Gastaut tipi","synonyms":["Geç başlangıçlı selim çocukluk çağı oksipital epilepsisi"]}},"xrefs":[{"source":"ICD-10","code":"G40.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A61.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"254674439"},{"source":"MONDO","code":"0020308","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0393677","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":726812,"name":"Self limited focal childhood epilepsy","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}