{"orpha":139431,"name":"Epilepsy with eyelid myoclonia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["EMA","EMEA","Eyelid myoclonia with and without absences","Jeavons syndrome"],"definition":"A rare, generalized form of reflex epilepsy characterized by childhood onset, unique seizure manifestations, striking light sensitivity, and possible occurrence of generalized tonic-clonic seizures. It is currently classified among genetic generalized epilepsy (GGEs) syndromes and kept distinct from idiopathic generalized epilepsies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-139431/","orphanet_url":"https://www.orpha.net/en/disease/detail/139431","names":{"fr":{"name":"Epilepsie avec myoclonie des paupières","synonyms":["EMA","EMEA","Myoclonie des paupières avec ou sans absence","Syndrome de Jeavons"],"definition":"Le syndrome de Jeavons est une forme d'épilepsie réflexe généralisée idiopathique caractérisée par un début pendant l'enfance, des crises convulsives caractéristiques, une photosensibilité importante et une apparition occasionnelle de convulsions tonico-cloniques généralisées."},"de":{"name":"Epilepsie mit Augenlidmyoklonie","synonyms":["Augenlid-Myoklonie mit und ohne Absencen","EMEA","Jeavons-Syndrom"],"definition":"Das Jeavons-Syndrom ist eine idiopathische, generalisierte Form von Reflexepilepsie, gekennzeichnet durch Beginn in der Kindheit, spezifisches Anfallsmuster, auffällige Lichtempfindlichkeit und mögliches Auftreten generalisierter tonisch-klonischer Krampfanfälle."},"es":{"name":"Epilepsia con mioclonías palpebrales","synonyms":["EMEA","Mioclonía palpebral con o sin ausencias","Síndrome de Jeavons"],"definition":"Es una forma de epilepsia refleja idiopática generalizada poco frecuente caracterizada por un inicio en la infancia, crisis convulsivas características, una destacada fotosensibilidad y una aparición ocasional de convulsiones tónico-clónicas generalizadas."},"it":{"name":"Epilessia con mioclonia delle palpebre","synonyms":["EMA","EMEA","Mioclonia delle palpebre con e senza assenze","Mioclonia palpebrale con e senza assenze","Sindrome di Jeavons"]},"nl":{"name":"Epilepsie met myoclonie van ooglid","synonyms":["EMA","EMEA","Epilepsie met myoclonus van ooglid","Myoclonie van ooglid met en zonder absences","Syndroom van Jeavons"],"definition":"Een zeldzame, idiopathische, gegeneraliseerde vorm van reflexepilepsie, gekenmerkt door aanvang in de kindertijd, unieke manifestaties van insulten, opmerkelijke gevoeligheid voor licht, en mogelijk voorkomen van gegeneraliseerde tonisch-clonische insulten."},"pt":{"name":"Epilepsia com mioclonia da pálpebra","synonyms":["EMEA","Mioclonia da pálpebra com ou sem ausências","Síndrome Jeavons","EMA"]},"pl":{"name":"Zespół Jeavonsa","synonyms":["EMEA","Miolklonia powieki z lub bez nieświadomości","Padaczka z mioklonią powiek"]},"cs":{"name":"Jeavonsův syndrom","synonyms":["EMEA","Myoklonie víček s abcencemi nebo bez absencí"]},"uk":{"name":"Епілепсія з міоклонією повік","synonyms":["EMA","EMEA","Міоклонія повік з абсансами та без них","Синдром Джевонса"],"definition":"A rare, idiopathic, generalized form of reflex epilepsy characterized by childhood onset, unique seizure manifestations, striking light sensitivity, and possible occurrence of generalized tonic-clonic seizures."},"zh":{"name":"Jeavons综合征","synonyms":["眼睑肌阵挛伴或不伴缺如"],"definition":"一种罕见的特发性全身性反射性癫痫，其特征是儿童起病，独特惊厥表现，显著光敏感性，且可能发生全身性强直阵挛性癫痫发作。"},"tr":{"name":"Jeavons sendromu","synonyms":["EMEA","Absans nöbetle seyreden ve seyretmeyen göz kapağı miyoklonisi"]}},"xrefs":[{"source":"ICD-10","code":"G40.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A61.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"262814036"},{"source":"MONDO","code":"0015346","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274731","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19916","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10084303","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98259,"name":"Childhood-onset epilepsy syndrome","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","Unknown"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-11-18","source":"32554361[PMID]_32369428[PMID]_30082241[PMID]","terms":[{"hpo":"HP:0011168","label":"Eyelid myoclonias","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002121","label":"Generalized non-motor (absence) seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025190","label":"Bilateral tonic-clonic seizure with generalized onset","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011185","label":"EEG with focal epileptiform discharges","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011193","label":"EEG with focal spikes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010858","label":"EEG with hyperventilation-induced epileptiform discharges","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010852","label":"EEG with photoparoxysmal response","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100785","label":"Insomnia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045084","label":"Limb myoclonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0020216","label":"Visually-induced seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002457","label":"Abnormal head movements","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010819","label":"Atonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012001","label":"EEG with generalized polyspikes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010850","label":"EEG with spike-wave complexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002373","label":"Febrile seizure (within the age range of 3 months to 6 years)","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011182","label":"Interictal epileptiform activity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007704","label":"Paroxysmal involuntary eye movements","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031491","label":"Continuous spike and waves during slow sleep","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010818","label":"Generalized tonic seizure","frequency":"Very rare (<4-1%)","criteria":null}]}}