{"orpha":307,"name":"Juvenile myoclonic epilepsy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["JME","Juvenile myoclonus epilepsy"],"definition":"A rare epilepsy syndrome characterized by adolescence/young adulthood onset of myoclonic with or without other generalized seizure types in an otherwise healthy individual. The electroencephalogram (EEG) shows 3-5.5&nbsp;Hz generalized spike-waves and polyspike-waves. Photosensitivity is common.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-307/","orphanet_url":"https://www.orpha.net/en/disease/detail/307","names":{"fr":{"name":"Epilepsie myoclonique juvénile","definition":"Syndrome épileptique rare caractérisé par l'apparition, à l'adolescence ou au début de l'âge adulte, de crises myocloniques accompagnées ou non d'autres types de crises convulsives généralisées chez un individu par ailleurs en bonne santé. L'électroencéphalogramme (EEG) met en évidence des pointes-ondes et des polypointes généralisées dans la fréquence comprise entre 3 et 5,5&nbsp;Hz. La photosensibilité est fréquente."},"de":{"name":"Myoklonusepilepsie, juvenile","synonyms":["JME","Juvenile myoklonische Epilepsie"],"definition":"Ein seltenes Epilepsiesyndrom, das durch das Auftreten von myoklonischen Anfällen im Jugendalter/jungen Erwachsenenalter mit oder ohne andere generalisierte Anfälle bei ansonsten gesunden Personen gekennzeichnet ist. Das Elektroenzephalogramm (EEG) zeigt 3-5.5 Hz generalisierte Spike-Wellen und Polyspike-Wellen. Lichtempfindlichkeit ist häufig."},"es":{"name":"Epilepsia mioclónica juvenil","synonyms":["Epilepsia juvenil con mioclono","JME"],"definition":"Es un síndrome epiléptico poco frecuente caracterizado por la aparición en la adolescencia o en la edad adulta temprana de crisis mioclónicas, con o sin otros tipos de crisis generalizadas, en un individuo por lo demás sano. El electroencefalograma (EEG) muestra un patrón con puntas-ondas y polipuntas-ondas de 3-5,5 Hz generalizadas. La fotosensibilidad es frecuente."},"it":{"name":"Epilessia mioclonica giovanile","synonyms":["Epilessia giovaniale con mioclonie","JME"],"definition":"L'epilessia mioclonica giovanile è la sindrome ereditaria da epilessia generalizzata più comune, caratterizzata da scosse miocloniche a livello degli arti superiori al risveglio, crisi tonico-cloniche generalizzate durante l'adolescenza, scatenate dalla privazione del sonno, dall'assunzione di alcol e dalle attività cognitive, e da crisi di assenza tipiche (30% dei casi)."},"nl":{"name":"Juveniele myoclonische epilepsie","synonyms":["JME","Juveniele myoclonusepilepsie"],"definition":"Een zeldzaam epilepsiesyndroom, gekenmerkt door myoclonische insulten in de adolescentie/jonge volwassenheid met of zonder andere types van gegeneraliseerde insulten bij een voor het overige gezond individu. Het elektro-encefalogram (EEG) toont 3-5,5 Hz gegeneraliseerde piekgolven en polypiekgolven. Lichtgevoeligheid komt vaak voor."},"pt":{"name":"Epilepsia mioclónica juvenil"},"pl":{"name":"Młodzieńcza padaczka miokloniczna","synonyms":["JME"],"definition":"Młodzieńcza padaczka miokloniczna jest najczęstszą dziedziczną idiopatyczną padaczką uogólnioną. Charakteryzuje się drgawkami mioklonicznymi kończyn górnych po przebudzeniu, uogólnionymi napadami toniczno-klonicznymi pojawiającymi się w okresie dojrzewania i wywoływanymi przez deprywację snu, spożycie alkoholu i aktywność umysłową oraz typowe napady nieświadomości (30% przypadków)."},"cs":{"name":"Juvenilní myoklonická epilepsie","synonyms":["JME","Juvenilní myoklonie"]},"uk":{"name":"Ювенільна міоклонічна епілепсія","synonyms":["JME","Ювенільна міоклонусна епілепсія"],"definition":"Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases)."},"zh":{"name":"青少年肌阵挛性癫痫","synonyms":["少年肌阵挛性癫痫"]},"tr":{"name":"Jüvenil miyoklonik epilepsi","synonyms":["JME","jüvenil miyoklonus epilepsisi"]}},"xrefs":[{"source":"OMIM","code":"254770","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"604827","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"607628","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"607682","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"608816","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611136","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611364","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613060","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614280","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617924","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A61.30","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1014397110"},{"source":"MONDO","code":"0009696","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D020190","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0270853","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6808","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10071082","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":98123,"name":"OBSOLETE: Channelopathy due to a neuronal kidney GABA receptor defect","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98749,"name":"Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect","classifications":[156]},{"orpha":306759,"name":"Non progressive epilepsy and/or ataxia with myoclonus as a major feature","classifications":[156,181]},{"orpha":699645,"name":"Variable age-onset epilepsy syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"JRK","name":"Jrk helix-turn-helix protein","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"11463517[PMID]","hgnc":"6199","ensembl":"ENSG00000234616","omim":"603210","loci":["8q24.3"]},{"symbol":"CACNB4","name":"calcium voltage-gated channel auxiliary subunit beta 4","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23756480[PMID]","hgnc":"1404","ensembl":"ENSG00000182389","omim":"601949","loci":["2q23.3"]},{"symbol":"CILK1","name":"ciliogenesis associated kinase 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"29539279[PMID]","hgnc":"21219","ensembl":"ENSG00000112144","omim":"612325","loci":["6p12.1"]},{"symbol":"CLCN2","name":"chloride voltage-gated channel 2","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"12612585[PMID]_19191339[PMID]_23756480[PMID]","hgnc":"2020","ensembl":"ENSG00000114859","omim":"600570","loci":["3q27.1"]},{"symbol":"EFHC1","name":"EF-hand domain containing 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23756480[PMID]","hgnc":"16406","ensembl":"ENSG00000096093","omim":"608815","loci":["6p12.2"]},{"symbol":"GABRA1","name":"gamma-aminobutyric acid type A receptor subunit alpha1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23756480[PMID]","hgnc":"4075","ensembl":"ENSG00000022355","omim":"137160","loci":["5q34"]},{"symbol":"GABRD","name":"gamma-aminobutyric acid type A receptor subunit delta","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23756480[PMID]","hgnc":"4084","ensembl":"ENSG00000187730","omim":"137163","loci":["1p36.33"]},{"symbol":"KCNQ3","name":"potassium voltage-gated channel subfamily Q member 3","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"12928862[PMID]","hgnc":"6297","ensembl":"ENSG00000184156","omim":"602232","loci":["8q24.22"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.7,"area":"Norway","status":"Validated","source":"27861775[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-02-21","source":"10648364[PMID]_3140737[PMID]_8503795[PMID]_9259280[PMID]_1638202[PMID]_1619419[PMID]","terms":[{"hpo":"HP:0002392","label":"EEG with polyspike wave complexes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002197","label":"Generalized-onset seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007000","label":"Morning myoclonic jerks","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000153","label":"Abnormality of the mouth","frequency":"Frequent (79-30%)","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:0002121","label":"Generalized non-motor (absence) seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007207","label":"Photosensitive tonic-clonic seizures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002133","label":"Status epilepticus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Excluded (0%)","criteria":null}]}}