{"orpha":166433,"name":"Epilepsy with reading-induced seizures","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["EwRIS"],"definition":"A rare reflex epilepsy characterized by reading-induced seizures which in most cases present with orofacial/jaw myoclonus possibly extending to the upper limbs but can also manifest as dyslexia or alexia and visual symptoms. In both variants secondary generalized tonic-clonic seizures may evolve if the stimulus is not interrupted. The disease typically begins in the second or third decade of life and may be inherited in an autosomal dominant pattern. It usually takes a benign course with little tendency to spontaneous seizures.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-166433/","orphanet_url":"https://www.orpha.net/en/disease/detail/166433","names":{"fr":{"name":"Epilepsie avec crises induites par la lecture","synonyms":["Crises réflexes à la lecture","EwRIS"],"definition":"Epilepsie réflexe rare caractérisée par des crises épileptiques induites par la lecture qui se présentent, dans la plupart des cas, par des myoclonies orofaciales/mandibulaires avec extension possible aux membres supérieurs. Les crises épileptiques peuvent aussi se manifester par une dyslexie ou une alexie, ainsi que par des symptômes de troubles visuels. Dans les deux présentations, des crises tonico-cloniques généralisées peuvent s'ensuivre en l'absence d'interruption du stimulus. La maladie débute généralement au cours de la deuxième ou troisième décennie de vie et peut être transmise sur le mode autosomique dominant. L'évolution de la maladie est généralement bénigne, avec une faible propension aux crises spontanées."},"de":{"name":"Leseepilepsie","synonyms":["EwRIS"],"definition":"Eine seltene Reflexepilepsie, die durch leseinduzierte Anfälle gekennzeichnet ist, die in den meisten Fällen mit einem Myoklonus im Gesichts-/Kieferbereich auftreten, der sich möglicherweise auf die oberen Gliedmaßen ausdehnt, sich aber auch als Legasthenie oder Alexie und visuelle Symptome manifestieren kann. Bei beiden Varianten kann es zu sekundären generalisierten tonisch-klonischen Anfällen kommen, wenn der Stimulus nicht unterbrochen wird. Die Krankheit beginnt typischerweise im zweiten oder dritten Lebensjahrzehnt und kann autosomal-dominant vererbt werden. Sie nimmt in der Regel einen gutartigen Verlauf mit geringer Neigung zu spontanen Anfällen."},"es":{"name":"Epilepsia con crisis inducidas por la lectura","definition":"Es una epilepsia refleja poco frecuente caracterizada por crisis inducidas por la lectura, que en la mayoría de los casos se presenta con mioclonía orofacial/ mandibular que puede extenderse hasta las extremidades superiores, aunque también puede manifestarse como dislexia o alexia y síntomas visuales. En ambas variantes, las crisis pueden evolucionar a crisis generalizadas tónico-clónicas secundarias si no se interrumpe el estímulo. La enfermedad comienza típicamente en la segunda o tercera década de la vida y puede heredarse según un patrón autosómico dominante. Por lo general sigue un curso benigno con escasas crisis espontáneas."},"it":{"name":"Crisi epilettiche indotte dalla lettura","definition":"Si tratta di un'epilessia riflessa rara, caratterizzata da crisi indotte dalla lettura che, nella maggior parte dei pazienti, esordiscono con mioclono orofacciale/della mandibola, che può estendersi agli arti superiori, oppure con dislessia o alessia e sintomi visivi. In entrambi i casi le crisi tonico-cloniche generalizzate secondarie possono aggravarsi se lo stimolo non viene interrotto. Di solito la malattia insorge nella seconda o terza decade di vita; la trasmissione è autosomica dominante. In genere il decorso è benigno, con scarsa tendenza alle crisi spontanee."},"nl":{"name":"Epilepsie met door lezen geïnduceerde insulten","synonyms":["Epileptische aanval bij lezen","EwRIS"],"definition":"Een zeldzame reflexepilepsie, gekarakteriseerd door epileptische aanvallen die geïnduceerd worden door lezen en die zich in de meeste gevallen presenteren met orofaciale myoclonus en myoclonus van kaak met mogelijk uitbreiding naar de bovenste ledematen, maar zich ook kunnen manifesteren als dyslexie of alexie en visuele symptomen. Bij beide varianten kunnen secundaire gegeneraliseerde tonisch-clonische insulten evolueren indien de stimulus niet wordt onderbroken. De ziekte vangt doorgaans aan in het tweede of derde levensdecennium en kan autosomaal dominant overgeërfd worden. Het verloop is goedaardig en spontane insulten zijn weinig waarschijnlijk."},"pt":{"name":"Epilepsia com convulsões induzidas pela leitura","synonyms":["EwRIS"]},"pl":{"name":"Napady padaczkowe wywołane czytaniem","synonyms":["EwRIS"]},"cs":{"name":"Záchvaty vyvolané čtením","synonyms":["EwRIS"]},"uk":{"name":"Епілепсія з рефлекторними судомами, що викликаються читанням","definition":"A rare reflex epilepsy characterized by reading-induced seizures which in most cases present with orofacial/jaw myoclonus possibly extending to the upper limbs but can also manifest as dyslexia or alexia and visual symptoms. In both variants secondary generalized tonic-clonic seizures may evolve if the stimulus is not interrupted. The disease typically begins in the second or third decade of life and may be inherited in an autosomal dominant pattern. It usually takes a benign course with little tendency to spontaneous seizures."},"zh":{"name":"阅读性癫痫","definition":"一种罕见的反射性癫痫，其特征是由阅读引起的癫痫发作，多数情况下出现口面部/下颌肌阵挛，可能延伸至上肢，但也可表现为阅读障碍或失读症和视觉症状。在这两种变体中，若刺激不中断，则可能发生继发性全身性强直阵挛性癫痫发作。该疾病通常始于二十岁或三十岁，并可能以常染色体显性遗传模式遗传。该病通常为良性病程，少有自发性癫痫发作的倾向。"},"tr":{"name":"Okuma nöbetleri"}},"xrefs":[{"source":"OMIM","code":"132300","qualifier":"E","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":"692290356"},{"source":"MONDO","code":"0007560","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0278193","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":101.0,"area":"Worldwide","status":"Validated","source":"37437391[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"37437391[PMID]_ORPHANET"}],"phenotypes":null}