{"orpha":439218,"name":"KCNQ2-related developmental and epileptic encephalopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["KCNQ2-DEE"],"definition":"KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-439218/","orphanet_url":"https://www.orpha.net/en/disease/detail/439218","names":{"fr":{"name":"Encéphalopathie développementale et épileptique associée à KCNQ2","synonyms":["KCNQ2-DEE"],"definition":"Forme sévère d'épilepsie néonatale qui se manifeste généralement chez le nouveau-né au cours de la première semaine de vie par des crises (qui affectent alternativement les deux côtés du corps), souvent accompagnées de crises cloniques ou d'une atteinte motrice plus complexe, ainsi que par des signes d'encéphalopathie tels qu'une hypotonie diffuse, une spasticité des membres, une absence de fixation et de suivi visuels et une déficience intellectuelle légère à modérée. La sévérité peut aller de crises contrôlées à intraitables et d'une déficience intellectuelle légère/modérée à sévère."},"de":{"name":"KCNQ2-assoziierte entwicklungsbedingte und epileptische Enzephalopathie","synonyms":["KCNQ2-DEE"],"definition":"Die KCNQ2-assoziierte entwicklungsbedingte und epileptische Enzephalopathie ist eine schwere Form der neonatalen Epilepsie. Sie manifestiert sich bei Neugeborenen in der Regel in der ersten Lebenswoche in Form von Anfällen, die abwechselnd beide Körperseiten betreffen. Oft sind auch klonische Zuckungen oder komplexeres motorisches Verhalten zu beobachten, sowie Anzeichen einer Enzephalopathie mit diffuser Hypotonie, Spastizität der Gliedmaßen, mangelnder visueller Fixierung und Blickverfolgung sowie leichter bis mittelschwerer intellektueller Beeinträchtigung. Der Schweregrad kann von kontrollierten bis hin zu hartnäckigen Anfällen und leichter/mittelschwerer bis schwerer Intelligenzminderung reichen."},"es":{"name":"Encefalopatía epiléptica y del desarrollo asociada a KCNQ2","synonyms":["EED-KCNQ2"],"definition":"Es una forma grave de epilepsia neonatal que, por lo general, se manifiesta en recién nacidos durante la primera semana de vida con convulsiones (que afectan alternativamente a ambos lados del cuerpo), a menudo acompañadas de sacudidas clónicas o de un comportamiento motor más complejo, así como signos de encefalopatía, tales como hipotonía difusa, espasticidad en las extremidades, pérdida de agudeza y seguimiento visual y discapacidad intelectual de leve a moderada. La gravedad puede variar desde crisis epilépticas controladas a refractarias y discapacidad intelectual de leve / moderada a grave."},"it":{"name":"Encefalopatia epilettica correlata a KCNQ2","synonyms":["KCNQ2-NEE"],"definition":"L'encefalopatia epilettica correlata a KCNQ2 è una forma grave di epilessia neonatale, che si solito esordisce nella prima settimana di vita con crisi epilettiche (che interessano alternativamente entrambi i lati del corpo), spesso associate a scosse cloniche o sintomi motori più complessi, e ai segni clinici dell'encefalopatia, così come l'ipotonia generalizzata, la spasticità agli arti, la mancanza di fissazione e di inseguimento visivo e il deficit intellettivo lieve-moderato. La gravità è variabile e va dalle crisi controllabili fino a quelle non trattabili; la disabilità intellettiva può essere lieve-moderata o grave."},"nl":{"name":"KCNQ2-gerelateerde epileptische encefalopathie met ontwikkelingsstoornis","synonyms":["KCNQ2-DEE"],"definition":"KCNQ2-gerelateerde epileptische encefalopathie is een ernstige vorm van neonatale epilepsie die zich meestal manifesteert in nieuwgeborenen tijdens de eerste levensweek met insulten (die alternerend beide zijden van het lichaam treffen), vaak vergezeld van clonische schokken of complexer motorisch gedrag, alsook met tekenen van encefalopathie zoals diffuse hypotonie, spasticiteit van de ledematen, gebrek aan visuele fixatie en oogvolgbewegingen, en milde tot matige intellectuele deficiëntie. De ernst kan gaan van gecontroleerde tot onbehandelbare insulten en milde/matige tot ernstige intellectuele achterstand."},"pt":{"name":"Encefalopatia epiléptica e do desenvolvimento KCNQ2-relacionada","synonyms":["KCNQ2-DEE"]},"pl":{"name":"Encefalopatia padaczkowa zależna od KCNQ2","synonyms":["KCNQ2-NEE","Encefalopatia padaczkowa noworodków zależna od KCNQ2"]},"cs":{"name":"KCNQ2-vázaná epileptická encefalopatie","synonyms":["KCNQ2-NEE","KCNQ2-vázaná epileptická encefalopatie novorozenců"]},"uk":{"name":"Епілептична енцефалопатія, повязана з KCNQ2","synonyms":["KCNQ2-NEE","Неонатальна епілептична енцефалопатія, повязана з KCNQ2"],"definition":"KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability."},"zh":{"name":"KCNQ2相关的癫痫性脑病","synonyms":["KCNQ2相关新生儿癫痫性脑病"],"definition":"KCNQ2相关的癫痫性脑病是新生儿惊厥的一种严重形式，通常在新生儿的第一周出现癫痫发作（影响到身体的两侧），并伴有阵挛性抽搐或更复杂的运动行为，以及脑病的迹象，例如弥漫性肌张力低下，肢体痉挛，视觉无法固定和追踪以及轻度至中度智力障碍。严重程度的范围从可控制癫痫发作到顽固性癫痫发作，轻度/中度智力障碍到重度智力障碍。"},"tr":{"name":"KCNQ2-ilişkili epileptik ensefalopati","synonyms":["KCNQ2-NEE","KCNQ2-ilişkili yenidoğan epileptik ensefalopati"]}},"xrefs":[{"source":"OMIM","code":"613720","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013387","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4755256","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13060","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":693802,"name":"Neonatal/infantile-onset epilepsy syndrome","classifications":[156,181]},{"orpha":98746,"name":"Neurological channelopathy of the central nervous system due to a genetic potassium channel defect","classifications":[156]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"KCNQ2","name":"potassium voltage-gated channel subfamily Q member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23621294[PMID]_20437616[PMID]","hgnc":"6296","ensembl":"ENSG00000075043","omim":"602235","loci":["20q13.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"20437616[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20437616[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-03-24","source":"23621294[PMID]_12742592[PMID]","terms":[{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010851","label":"EEG with burst suppression","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200134","label":"Epileptic encephalopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010818","label":"Generalized tonic seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002453","label":"Abnormal globus pallidus morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002104","label":"Apnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002181","label":"Cerebral edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011097","label":"Epileptic spasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001041","label":"Facial erythema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007015","label":"Poor gross motor coordination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012736","label":"Profound global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002521","label":"Hypsarrhythmia","frequency":"Occasional (29-5%)","criteria":null}]}}