{"orpha":1942,"name":"Epilepsy with myoclonic-atonic seizures","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Doose syndrome","EMAS","EMAtS","Epilepsy with myoclonic-astatic seizures","MAE","Myoclonic atonic epilepsy","Myoclonic-astatic epilepsy in early childhood"],"definition":"A rare, childhood-onset epilepsy syndrome characterized by multiple seizure types including myoclonic-atonic (MA) seizures that occur usually in previously healthy children.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1942/","orphanet_url":"https://www.orpha.net/en/disease/detail/1942","names":{"fr":{"name":"Epilepsie avec crises myoclono-atoniques","synonyms":["EMAS","EMAtS","MAE","Syndrome de Doose","Epilepsie myoclono-astatique du jeune enfant"],"definition":"Syndrome épileptique de l'enfance rare, caractérisé par de multiples types de crises, notamment des crises myocloniques-atoniques (MA) qui surviennent habituellement chez des enfants jusqu'alors en bonne santé."},"de":{"name":"Epilepsie mit myoklonisch-astatischen Krisen","synonyms":["Doose-Syndrom","EMAS","EMAtS","Epilepsie mit myoklonisch-astatischen Krämpfen","Epilepsie mit myoklonisch-atonischen Anfällen","MAE","Myoklonisch-astatische Epilepsie des frühen Kindesalters","Myoklonisch-atone Epilepsie"],"definition":"Ein im Kindesalter auftretendes Epilepsiesyndrom, das durch mehrere Anfallstypen einschließlich myoklonisch-atonischer Anfälle (MA) gekennzeichnet ist, die normalerweise bei zuvor gesunden Kindern auftreten."},"es":{"name":"Epilepsia con crisis mioclónicas-atónicas","synonyms":["EMAS","EMAtS","Epilepsia con crisis mioclónicas astáticas","Epilepsia mioclónica astática infantil temprana","Epilepsia mioclónica atónica","MAE","Síndrome de Doose"],"definition":"Es un síndrome epiléptico de la infancia poco frecuente caracterizado por la aparición de múltiples tipos de crisis epilépticas que incluyen crisis mioclónicas-astáticas (MA), tónico-clónicas generalizadas y de ausencia, generalmente en niños previamente sanos."},"it":{"name":"Epilessia mioclono-astatica","synonyms":["EMAS","Epilessia atonica mioclonica","Epilessia con crisi mioclono-astatiche","Epilessia con crisi mioclono-atoniche","Epilessia mioclonica-astatica della prima infanzia","MAE","Sindrome di Doose"],"definition":"Si tratta di un'epilessia rara ad esordio infantile, caratterizzata da diversi tipi di convulsioni, che comprendono le crisi mioclonico-atoniche (MA), che in genere si manifestano nei bambini sani."},"nl":{"name":"Epilepsie met myoclonisch-atonische insulten","synonyms":["EMAS","EMAtS","Epilepsie met myoclonisch-astatische insulten","MAE","Myoclonisch-astatische epilepsie in de vroege kindertijd","Myoclonische atonische epilepsie","Syndroom van Doose"],"definition":"Een zeldzaam epilepsiesyndroom met aanvang in de kindertijd, gekenmerkt door meerdere types van insulten, waaronder myoclonisch-atonische (MA) insulten die meestal optreden bij voorheen gezonde kinderen."},"pt":{"name":"Epilepsia com crises mioclonico-atónicas","synonyms":["Epilepsia com crises mioclonico-estáticas","Epilepsia mioclónica atónica","Epilepsia mioclónico-estática na primeira infância","MAE","Síndrome Doose","EMAS","EMAtS"]},"pl":{"name":"Padaczka miokloniczno-astatyczna","synonyms":["EMAS","MAE","Miokloniczna padaczka atoniczna","Padaczka z napadami miokloniczno-astatycznymi","Padaczka z napadami miokloniczno-astatycznymi we wczesnym dzieciństwie","Padaczka z napadami miokloniczno-atonicznymi","Zespół Doose"]},"cs":{"name":"Myoklonickoastatická epilepsie","synonyms":["Dooseho syndrom","EMAS","MAE","Myoklonickoatonická epilepsie","Epilepsie s myoklonickoastatickými křečemi","Epilepsie s myoklonickoatonickými křečemi","Myoklonickoastatická epilepsie v časném dětství"]},"uk":{"name":"Міоклонічно-астатична епілепсія","synonyms":["Синдром Дузе","EMAS","Епілепсія з міоклонічно-астатичними нападами","Епілепсія з міоклонічно-атонічними нападами","МАЕ","Міоклонічна атонічна епілепсія","Міоклонічно-астатична епілепсія в ранньому дитинстві"],"definition":"A rare, childhood onset epilepsy syndrome characterized by multiple seizure types including myoclonic-atonic (MA) seizures that occur usually in previously healthy children."},"zh":{"name":"肌阵挛性无定向癫痫","synonyms":["幼儿早期出现的肌阵挛-站立不能发作"]},"tr":{"name":"Miyoklonik-astastik epilepsi","synonyms":["MAE","EMAS","Doose sendromu","Miyoklonik atonik epilepsi","Miyoklonik-atonik nöbetler ile seyreden epilepsi","Miyoklonik-astatik nöbetler ile seyreden epilepsi","Erken çocukluk döneminde miyoklonik-astatik epilepsi"]}},"xrefs":[{"source":"OMIM","code":"615369","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616421","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618587","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A61.22","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"951920505"},{"source":"MONDO","code":"0016025","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"14633","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16025","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0393702","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2169","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10081179","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":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SLC6A1","name":"solute carrier family 6 member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25865495[PMID]","hgnc":"11042","ensembl":"ENSG00000157103","omim":"137165","loci":["3p25.3"]},{"symbol":"AP2M1","name":"adaptor related protein complex 2 subunit mu 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31104773[PMID]","hgnc":"564","ensembl":"ENSG00000161203","omim":"601024","loci":["3q27.1"]},{"symbol":"CHD2","name":"chromodomain helicase DNA binding protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23708187[PMID]","hgnc":"1917","ensembl":"ENSG00000173575","omim":"602119","loci":["15q26.1"]},{"symbol":"NEXMIF","name":"neurite extension and migration factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32469098[PMID]","hgnc":"29433","ensembl":"ENSG00000050030","omim":"300524","loci":["Xq13.3"]},{"symbol":"SCN1A","name":"sodium voltage-gated channel alpha subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21396429[PMID]","hgnc":"10585","ensembl":"ENSG00000144285","omim":"182389","loci":["2q24.3"]},{"symbol":"SLC2A1","name":"solute carrier family 2 member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21555602[PMID]_31170314[PMID]","hgnc":"11005","ensembl":"ENSG00000117394","omim":"138140","loci":["1p34.2"]},{"symbol":"SYNGAP1","name":"synaptic Ras GTPase activating protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32469098[PMID]","hgnc":"11497","ensembl":"ENSG00000197283","omim":"603384","loci":["6p21.32"]}],"genes_via_subtypes":[],"inheritance":["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":"2021-04-06","source":"29729532[PMID]_32469098[PMID]","terms":[{"hpo":"HP:0011197","label":"EEG with focal spike waves","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011170","label":"Myoclonic atonic seizures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010819","label":"Atonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025190","label":"Bilateral tonic-clonic seizure with generalized onset","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002392","label":"EEG with polyspike wave complexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002121","label":"Generalized non-motor (absence) seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002332","label":"Lack of peer relationships","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100851","label":"Abnormal emotion/affect behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0410263","label":"Brain imaging abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010845","label":"EEG with generalized slow activity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001326","label":"EEG with irregular generalized spike and wave complexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011182","label":"Interictal epileptiform activity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012760","label":"Reduced social responsiveness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011171","label":"Simple febrile seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000289","label":"Broad philtrum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0200134","label":"Epileptic encephalopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002292","label":"Frontal balding","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100678","label":"Premature skin wrinkling","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001159","label":"Syndactyly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000179","label":"Thick lower lip vermilion","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009928","label":"Thick nasal alae","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011097","label":"Epileptic spasm","frequency":"Excluded (0%)","criteria":null}]}}