{"orpha":98818,"name":"Landau-Kleffner syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Acquired epileptic aphasia","LKS"],"definition":"A rare form of epileptic encephalopathy with spike-wave activation in sleep (EE-SWAS) characterized by various combinations of acquired cognitive, language, behavioral, and motor deficits associated with marked spike- and- wave activation in sleep. In Landau-Kleffner syndrome (LKS), receptive language is mainly affected, with an acquired auditory verbal agnosia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98818/","orphanet_url":"https://www.orpha.net/en/disease/detail/98818","names":{"fr":{"name":"Syndrome de Landau-Kleffner","synonyms":["Aphasie acquise de l'enfant avec épilepsie","LKS","SLK"],"definition":"Forme rare d'encéphalopathie épileptique avec activation des pointes-ondes dans le sommeil (EE-SWAS pour epileptic encephalopathy with spike-wave activation in sleep) caractérisée par une association variable de déficits cognitifs, de troubles du langage, du comportement et de troubles moteurs, et d'une activation marquée des pointes-ondes dans le sommeil. Dans le syndrome de Landau-Kleffner (SLK), le langage réceptif est principalement affecté, avec une agnosie verbale auditive acquise."},"de":{"name":"Landau-Kleffner-Syndrom","synonyms":["Erworbene epileptische Aphasie","LKS"],"definition":"Eine seltene Form der epileptischen Enzephalopathie mit Spike-Wave-Aktivierung im Schlaf (EE-SWAS), die durch verschiedene Kombinationen erworbener kognitiver, sprachlicher, verhaltensbezogener und motorischer Defizite in Verbindung mit ausgeprägter Spike- und Wave-Aktivierung im Schlaf gekennzeichnet ist. Beim Landau-Kleffner-Syndrom (LKS) ist hauptsächlich die rezeptive Sprache betroffen, mit einer erworbenen auditiven verbalen Agnosie."},"es":{"name":"Síndrome de Landau-Kleffner","synonyms":["Afasia epiléptica adquirida","LKS"],"definition":"Es una forma poco frecuente de encefalopatía epiléptica con activación punta-onda durante el sueño (EE-SWAS) caracterizada por varias combinaciones de déficits cognitivos, del lenguaje, conductuales y motores adquiridos asociados con una marcada activación punta-onda durante el sueño. En el síndrome de Landau-Kleffner (SLK) se ve afectado principalmente el lenguaje receptivo, con agnosia auditiva verbal adquirida."},"it":{"name":"Sindrome di Landau-Kleffner","synonyms":["Afasia epilettica acquisita","LKS"],"definition":"La sindrome di Landau-Kleffner (LKS) è un'encefalopatia epilettica legata all'età, in cui si osserva una regressione dello sviluppo, in particolare dell'area del linguaggio, ed anomalie EEG (elettroencefalogramma) localizzate prevalentemente attorno alle aree temporo-parietali. Il termine afasia epilettica acquisita definisce i segni principali di questa malattia."},"nl":{"name":"Syndroom van Landau-Kleffner","synonyms":["LKS","Verworven epileptische afasie"],"definition":"Een zeldzame vorm van epileptische encefalopathie met activatie van piekgolven tijdens de slaap (EE-SWAS), gekenmerkt door verschillende combinaties van verworven cognitieve, taal-, gedrags-, en motorische stoornissen geassocieerd met opmerkelijke activatie van piekgolven tijdens de slaap. Bij syndroom van Landau-Kleffner (LKS) is vooral receptieve taal aangetast, met een verworven auditieve verbale agnosie."},"pt":{"name":"Síndrome de Landau-Kleffner (LKS)"},"pl":{"name":"Zespół Landaua i Kleffnera","synonyms":["LKS","Nabyta afazja padaczkowa"]},"cs":{"name":"Landauův-Kleffnerův syndrom","synonyms":["Získaná epileptická afázie","LKS","Landau-Kleffnerův syndrom"]},"uk":{"name":"Синдром Ландау-Клеффнера","synonyms":["Набута епілептична афазія","LKS"],"definition":"Landau-Kleffner syndrome (LKS) is an age-related epileptic encephalopathy where developmental regression occurs mainly in the language domain and the electroencephalographic (EEG) abnormalities are mainly localized around the temporal-parietal regions. The term acquired epileptic aphasia describes the main features of this condition."},"zh":{"name":"Landau-Kleffner综合征","synonyms":["获得性癫痫性失语"],"definition":"Landau-Kleffner 综合征(LKS)是一种年龄相关性癫痫性脑病，主要在语言区发生发育倒退，脑电图(EEG)异常主要局限于颞顶区。获得性癫痫性失语一词描述了其主要特征。"},"tr":{"name":"Landau-Kleffner sendromu","synonyms":["LKS","Edinsel epileptik afazi"]}},"xrefs":[{"source":"OMIM","code":"245570","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"F80.3","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"8A62.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"348544271"},{"source":"MONDO","code":"0009509","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D018887","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0282512","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6855","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10052075","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":"23933820[PMID]_23933819[PMID]_23933818[PMID]","hgnc":"4585","ensembl":"ENSG00000183454","omim":"138253","loci":["16p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Unknown"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.4,"area":"Japan","status":"Validated","source":"23706409[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-03-30","source":"30537476[PMID]_31149903[PMID]_32257722[PMID]_31613525[PMID]","terms":[{"hpo":"HP:0002381","label":"Aphasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031491","label":"Continuous spike and waves during slow sleep","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025373","label":"Interictal EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002463","label":"Language impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002371","label":"Loss of speech","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011098","label":"Speech apraxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030391","label":"Spoken Word Recognition Deficit","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","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:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012015","label":"EEG with frontal focal spikes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011198","label":"EEG with generalized epileptiform discharges","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012018","label":"EEG with temporal focal spikes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011153","label":"Focal motor seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002121","label":"Generalized non-motor (absence) seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007086","label":"Social and occupational deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009088","label":"Speech articulation difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007270","label":"Atypical absence seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003698","label":"Difficulty standing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002384","label":"Focal impaired awareness seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011166","label":"Focal myoclonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011169","label":"Generalized clonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100710","label":"Impulsivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002300","label":"Mutism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031951","label":"Nocturnal seizures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032671","label":"Non-convulsive status epilepticus without coma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001350","label":"Slurred speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003376","label":"Steppage gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030057","label":"Autoimmune antibody positivity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0200134","label":"Epileptic encephalopathy","frequency":"Very rare (<4-1%)","criteria":null}]}}