{"orpha":725,"name":"Developmental and epileptic encephalopathy with spike-wave activation in sleep","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Epileptic encephalopathy with continuous spike-and-wave during slow sleep","Epileptic encephalopathy with spike-and wave activation in sleep","CSWS","CSWSS syndrome","Continuous spikes and waves during sleep","Continuous spikes and waves during slow-wave sleep","DEE-SWAS"],"definition":"Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-725/","orphanet_url":"https://www.orpha.net/en/disease/detail/725","names":{"fr":{"name":"Encéphalopathie épileptique et développementale avec activation des pointe-ondes dans le sommeil","synonyms":["CSWS","EEPOCS","EPOCS","Encéphalopathie épileptique avec pointe-continues du sommeil","Encéphalopathie épileptique avec pointes-ondes continues au cours du sommeil lent","Epilepsie avec pointes-ondes continues pendant le sommeil lent","Syndrome CSWSS","Syndrome POCS","Syndrome des pointes-ondes continues du sommeil","Syndrome des pointes-ondes continues pendant le sommeil lent"],"definition":"Le syndrome des pointes-ondes continues du sommeil (CSWS pour <i>continuous spikes and waves during sleep</i>) est une encéphalopathie épileptique rare de l'enfant caractérisée par des convulsions, un schéma électroencéphalographique (EEG) révélant un état de mal épileptique électrique pendant le sommeil (ESES) et une régression neurocognitive impliquant au moins deux domaines de développement."},"de":{"name":"Epilepsie mit kontinuierlichen Spike-Wave-Entladungen im Schlaf","synonyms":["Bioelektrischer Status epilepticus im Schlaf","CSWS","CSWS-Syndrom","DEE-SWAS","ESES-Syndrom","Entwicklungsbedingte und epileptische Enzephalopathie mit Spike-Wave-Aktivierung im Schlaf","Epileptische Enzephalopathie mit kontinuierlichen Spike-Wave-Entladungen im Slow-Wave-Schlaf"],"definition":"Die Epilepsie mit kontinuierlichen Spike-Wave-Entladungen im Schlaf (continuous spike-wave during sleep, CSWS) ist eine seltene epileptische Enzephalopathie bei Kindern. Charakteristisch sind Krampfanfälle, elektroenzephalographische Muster eines Status epilepticus im Schlaf (ESES) und eine kognitive Entwicklungsregression in mindestens zwei der Entwicklungsdomänen."},"es":{"name":"Encefalopatía epiléptica y del desarrollo con activación de punta-onda durante el sueño","synonyms":["CSWS","DEE-SWAS","Encefalopatía epiléptica con activación de punta-onda durante el sueño","Encefalopatía epiléptica con punta-onda continua durante el sueño lento","Punta-onda continua durante el sueño lento","Puntas y ondas continuas durante el sueño","Síndrome CSWSS"],"definition":"El síndrome de puntas-ondas continuas durante el sueño (CSWS) es una encefalopatía epiléptica rara de la infancia que se caracteriza por convulsiones, un patrón electroencefalográfico (EEG) de estado epiléptico de mal eléctrico en sueño (ESES) y regresión neurocognitiva en al menos en dos dominios del desarrollo."},"it":{"name":"Encefalopatia epilettica e dello sviluppo con attivazione di punte-onda durante il sonno","synonyms":["DEE-SWAS","Encefalopatia epilettica con attivazione di punte- onda durante il sonno","CSWS","Encefalopatia epilettica con punte-onde continue durante il sonno lento","Punte e onde continue durante il sonno ad onde lente","Sindrome CSWSS","Punte e onde continue durante il sonno"],"definition":"Le punte e le onde continue durante il sonno (CSWS) sono espressione di un'encefalopatia epilettica rara dell'infanzia caratterizzata da convulsioni, profilo elettroencefalografico (EEG) di stato epilettico elettrico nel sonno (ESES) e regressione neurocognitiva in almeno 2 aree dello sviluppo."},"nl":{"name":"Ontwikkelings- en epileptische encefalopathie met activatie van piekgolven tijdens de slaap","synonyms":["Epileptische encefalopathie met activatie van piekgolven tijdens de slaap","Epileptische encefalopathie met continue piekgolven tijdens de trage slaap","CSWS","CSWSS-syndroom","Continue piekgolven tijdens de slaap","Continue piekgolven tijdens de tragegolfslaap","DEE-SWAS"],"definition":"Een zeldzame epileptische encefalopathie van de kindertijd, gekarakteriseerd door insulten, een elektro-encefalografisch (EEG) patroon van elektrische status epilepticus in slaap (ESES), en neurocognitieve achteruitgang in minstens 2 domeinen van de ontwikkeling."},"pt":{"name":"Encefalopatia epiléptica e do desenvolvimento com ativação de pico-onda durante o sono","synonyms":["CSWS","DEE-SWAS","Encefalopatia epiléptica com ativação de picos e ondas durante o sono","Encefalopatia epiléptica com picos e ondas contínuos durante o sono lento","Picos e ondas contínuas durante o sono","Picos e ondas contínuas durante o sono de ondas lentas","Síndrome CSWS"]},"pl":{"name":"Zespół ciągłych wyładowań podczas snu wolnofalowego","synonyms":["CSWS","Encefalopatia padaczkowa z ciągłymi wyładowaniami podczas snu wolnofalowego","Wyładowania ciągłe i fale podczas snu wolnofalowego","Zespół CSWSS"]},"cs":{"name":"Kontinuální hroty a vlny během spánku","synonyms":["CSWS","CSWSS syndrom","Kontinuální hroty a vlny během hlubokého spánku","Epileptická encefalopatie s kontinuálními hroty a vlnami během spánku"]},"uk":{"name":"Постійна пік-хвильова активність під час сну","synonyms":["Безперервні піки та хвилі під час повільного сну","CSWS","Синдром CSWSS","Епілептична енцефалопатія з безперервними пік-хвилями під час повільного сну"],"definition":"Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development."},"zh":{"name":"睡眠中脑电图持续尖峰/波浪","synonyms":["癫痫性脑病伴慢波睡眠中脑电图持续尖峰/波浪"]},"tr":{"name":"Uyku sırasında sürekli yükselen ve dalgalanmalar","synonyms":["CSWS","CSWSS sendromu","Yavaş dalga uykusu sırasında devam eden yükselmeler ve dalgalar","Yavaş uyku sırasında devamlı yükselen ve dalgalı epileptik ensefalopati"]}},"xrefs":[{"source":"OMIM","code":"245570","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A62.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1030776216"},{"source":"MONDO","code":"0019123","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5552731","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1513","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10078827","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]}],"children":[],"genes":[{"symbol":"GRIN2A","name":"glutamate ionotropic receptor NMDA type subunit 2A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27683935[PMID]","hgnc":"4585","ensembl":"ENSG00000183454","omim":"138253","loci":["16p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-01-13","source":"33132036[PMID]_27683935[PMID]_31262717[PMID]","terms":[{"hpo":"HP:0031491","label":"Continuous spike and waves during slow sleep","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011182","label":"Interictal epileptiform activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007270","label":"Atypical absence seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012557","label":"EEG with centrotemporal focal spike waves","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012010","label":"EEG with frontal focal spike waves","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002349","label":"Focal aware seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006813","label":"Focal hemiclonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002384","label":"Focal impaired awareness seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011153","label":"Focal motor seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010819","label":"Atonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012001","label":"EEG with generalized polyspikes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002266","label":"Focal clonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002487","label":"Hyperkinetic movements","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002333","label":"Motor deterioration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011150","label":"Myoclonic absence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001345","label":"Psychotic mentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011098","label":"Speech apraxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009088","label":"Speech articulation difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011147","label":"Typical absence seizure","frequency":"Occasional (29-5%)","criteria":null}]}}