{"orpha":1934,"name":"Early infantile developmental and epileptic encephalopathy","type":"Clinical syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["EIDEE","Early infantile epileptic encephalopathy with suppression-bursts","Ohtahara syndrome"],"definition":"A severe form of age-related epileptic encephalopathies characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle, and that can occur hundreds of times per day, leading to psychomotor impairment and death.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1934/","orphanet_url":"https://www.orpha.net/en/disease/detail/1934","names":{"fr":{"name":"Encéphalopathie développementale et épileptique infantile précoce","synonyms":["EIDEE","Encéphalopathie épileptique infantile précoce avec \"suppression-bursts\"","Syndrome d'Ohtahara"],"definition":"L'encéphalopathie épileptique infantile précoce (EEIP) ou syndrome d'Ohtahara est l'une des formes les plus sévères d'encéphalopathie épileptique liée à l'âge. Elle se caractérise par l'apparition au cours des trois premiers mois de vie de spasmes toniques pouvant être généralisées ou latéralisées, indépendamment du cycle du sommeil, et pouvant survenir plusieurs centaines de fois par jour. Elle conduit à une atteinte psychomotrice et a une issue fatale."},"de":{"name":"Frühinfantile entwicklungsbedingte und epileptische Enzephalopathie","synonyms":["EIDEE","Frühinfantile epileptische Enzephalopathie mit Suppression-burst","Ohtahara-Syndrom"],"definition":"Schwere Form von altersbedingten epileptischen Enzephalopathien, die durch den Beginn tonischer Spasmen innerhalb der ersten 3 Lebensmonate gekennzeichnet sind, die unabhängig vom Schlafzyklus generalisiert oder lateralisiert werden können und die hunderte Male pro Tag auftreten können und zu psychomotorischen Beeinträchtigungen und zum Tod führen."},"es":{"name":"Encefalopatía epiléptica y del desarrollo infantil precoz","synonyms":["EIDEE","Encefalopatía epiléptica infantil precoz con brote-supresión","Síndrome de Ohtahara"],"definition":"Es una de las formas más graves de encefalopatías epilépticas relacionadas con la edad. Está caracterizada por la aparición de espasmos tónicos en los tres primeros meses de vida, que pueden ser generalizados o lateralizados, independientes del ciclo del sueño, y que pueden ocurrir cientos de veces al día, llegando a ocasionar deterioro psicomotor e incluso el fallecimiento."},"it":{"name":"Encefalopatia epilettica e dello sviluppo infantile precoce","synonyms":["EIEE","Encefalopatia epilettica infantile precoce con appiattimento elettrico cerebrale","Sindrome di Ohtahara"]},"nl":{"name":"Vroeg-infantiele ontwikkelingsstoornis en epileptische encefalopathie","synonyms":["EIDEE","Syndroom van Ohtahara","Vroeg-infantiele epileptische encefalopathie met burstsuppressie"],"definition":"Een ernstige vorm van leeftijdsgerelateerde epileptische encefalopathie, gekarakteriseerd door de aanvang van tonische spasmen tijdens de eerste 3 levensmaanden die gegeneraliseerd of aan één zijde kunnen voorkomen, die onafhankelijk zijn van de slaapcyclus, en die tot honderden keren per dag kunnen voorkomen, met psychomotorische beperkingen en de dood tot gevolg."},"pt":{"name":"Encefalopatia epiléptica e do desenvolvimento infantil precoce","synonyms":["EIDEE","Encefalopatia epiléptica infantil precoce com surtos de supressão","Síndrome Ohtahara"]},"pl":{"name":"Wczesnoniemowlęca encefalopatia rozwojowa i padaczkowa","synonyms":["EIEE","Wczesnoniemowlęca encefalopatia padaczkowa z tłumieniem wyładowań","Zespół Ohtahara"]},"cs":{"name":"Časná infantilní epileptická encefalopatie","synonyms":["EIEE","Časná infantilní epileptická encefalopatie s periodickými výboji s následujícím útlumem na EEG","Ohtaharův syndrom"]},"uk":{"name":"Рання інфантильна епілептична енцефалопатія","synonyms":["Рання дитяча епілептична енцефалопатія з судомними нападами","EIEE","Синдром Отахари"],"definition":"A severe form of age-related epileptic encephalopathies characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle, and that can occur hundreds of times per day, leading to psychomotor impairment and death."},"zh":{"name":"早期幼儿癫痫性脑病","synonyms":["早期婴儿癫痫性脑病伴抑制-爆发"]},"tr":{"name":"Erken infantil epileptik ensefalopati","synonyms":["EIEE","Ohtahara sendromu","Supresyon patlamaları ile seyreden erken infantil epileptik ensefalopati"]}},"xrefs":[{"source":"OMIM","code":"300672","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"308350","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609304","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612164","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613402","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613721","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616341","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617105","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617276","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617281","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617350","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617389","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617391","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617493","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617599","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618004","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618285","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618374","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618548","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618663","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619340","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619428","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620774","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"621468","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"621475","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A62.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1575860860"},{"source":"MONDO","code":"800491","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0393706","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9255","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10071545","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved 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000","value":1.0,"area":"Japan","status":"Validated","source":"19828294[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"United Kingdom","status":"Validated","source":"23252366[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-07-31","source":"31205438[PMID]_31097300[PMID]_18809835[PMID]_19396824[PMID]_22872100[PMID]_27905812[PMID]_27789573[PMID]_19812426[PMID]","terms":[{"hpo":"HP:0001250","label":"Seizure","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0200134","label":"Epileptic encephalopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011153","label":"Focal motor seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic 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(79-30%)","criteria":null},{"hpo":"HP:0002521","label":"Hypsarrhythmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002421","label":"Poor head control","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002033","label":"Poor suck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","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:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001266","label":"Choreoathetosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012448","label":"Delayed myelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002506","label":"Diffuse cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007204","label":"Diffuse white matter abnormalities","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100660","label":"Dyskinesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010850","label":"EEG with spike-wave complexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002131","label":"Episodic ataxia","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:0007359","label":"Focal-onset seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011169","label":"Generalized clonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002121","label":"Generalized non-motor (absence) seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010818","label":"Generalized tonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012469","label":"Infantile spasms","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001302","label":"Pachygyria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100716","label":"Self-injurious behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011190","label":"Uni- and bilateral multifocal epileptiform discharges","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012554","label":"Absent thumbnail","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001500","label":"Broad finger","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010174","label":"Broad phalanx of the toes","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000110","label":"Renal dysplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009381","label":"Short finger","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping forehead","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000070","label":"Ureterocele","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Very rare (<4-1%)","criteria":null}]}}