{"orpha":391316,"name":"TNK2-related epilepsy with severe cognitive regression","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression"],"definition":"Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression is a rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-391316/","orphanet_url":"https://www.orpha.net/en/disease/detail/391316","names":{"fr":{"name":"Epilepsie avec regression cognitive sévère associée à TNK2","synonyms":["Epilepsie temporale mésiale infantile avec régression cognitive sévère"],"definition":"Maladie monogénique rare caractérisée par des crises focales pharmacorésistantes d'apparition infantile affectant le lobe temporal mésial. Peu après l'apparition des premières crises, s'observent une absence de réponse aux stimuli, une hypertonie, des automatismes et une régression cognitive conduisant à une déficience intellectuelle sévère accompagnée de troubles comportementaux."},"de":{"name":"TNK2-assoziierte Epilepsie mit schwerer kognitiver Rückentwicklung","synonyms":["Infantile mesiale Temporallappenepilepsie mit schwerer kognitiver Regression"]},"es":{"name":"Epilepsia con regresión cognitiva grave asociada al gen TNK2","synonyms":["Epilepsia del lóbulo temporal mesial de inicio en el lactante con regresión cognitiva grave"],"definition":"Es una enfermedad monogénica poco frecuente con crisis epilépticas focales del lóbulo temporal mesial, farmacorresistentes, que comienzan en la lactancia. Se manifiesta por falta de reactividad, hipertonía y automatismos junto con regresión cognitiva poco después del inicio de las crisis, lo que conduce a discapacidad intelectual grave con anomalías conductuales."},"it":{"name":"Epilessia correlata a TNK2 con grave regressione cognitiva","synonyms":["Epilessia del lobo temporale mesiale ad esordio infantile con grave regressione cognitiva"],"definition":"L'epilessia del lobo temporale mesiale ad esordio infantile con grave regressione cognitiva è una malattia monogenica rara, caratterizzata da crisi epilettiche focali del lobo temporale mesiale farmacoresistenti ad esordio infantile, che si associano all'assenza di reazioni, ipertonia, automatismi e regressione cognitiva subito dopo l'inizio delle crisi, con conseguente disabilità intellettiva grave ed anomalie del comportamento."},"nl":{"name":"TNK2-gerelateerde epilepsie met ernstige cognitieve regressie","synonyms":["Infantiele mesiale temporaalkwabepilepsie met ernstige cognitieve regressie"],"definition":"Mesiale temporaalkwabepilepsie met ernstige cognitieve regressie met infantiele aanvang is een zeldzame monogenetische ziekte met infantiele aanvang van farmacoresistente focale insulten die aanvangen in de mesiale temporale kwabben, zich manifesteren met ongevoeligheid, hypertonie en automatismen en cognitieve regressie kort na aanvang van de insulten, en die leiden tot ernstige intellectuele invaliditeit met gedragsanomalieën."},"pt":{"name":"Epilepsia do lobo temporal mesial com início na infância e regressão cognitiva grave"},"pl":{"name":"Padaczka przyśrodkowej części płata skroniowego o początku w wieku dziecięcym z ciężką regresją poznawczą","synonyms":["Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression"],"definition":"*Padaczka przyśrodkowej części płata skroniowego o początku w wieku dziecięcym z ciężką regresją poznawczą jest rzadką, monogenową, oporną na leczenie farmakologiczne padaczką, w której ogniskowe napady lokalizują się w przyśrodkowej części płata skroniowego. Po wystąpieniu pierwszych napadów drgawkowych pojawia się wzmożone napięcie mięśniowe, brak reakcji na bodźce, automatyzmy oraz regresja poznawcza, które prowadzą do ciężkiej niepełnosprawności intelektualnej z zaburzeniami zachowania."},"cs":{"name":"Epilepsie meziotemporálního laloku s nástupem u kojenců, s těžkou kognitivní regresí","synonyms":["Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression"]},"uk":{"name":"Інфантильна мезіальна скронева епілепсія з тяжкою когнітивною регресією","definition":"Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression is a rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities."},"zh":{"name":"婴儿期起病颞叶内侧癫痫伴严重认知功能减退","definition":"婴幼儿起病颞叶内侧癫痫伴严重认知衰退是一种罕见的单基因疾病，表现为婴儿期起病的颞叶内侧叶局灶性癫痫发作，表现为无反应性、高肌张力和自动症、发作后不久认知功能减退，导致严重的智力障碍和行为异常。"},"tr":{"name":"Ağır bilişsel gerileme ile seyreden infantil başlangıçlı mezyal temporal lob epilepsisi"}},"xrefs":[{"source":"ICD-10","code":"G40.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018314","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4750853","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":166472,"name":"Monogenic disease with epilepsy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"TNK2","name":"tyrosine kinase non receptor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23686771[PMID]","hgnc":"19297","ensembl":"ENSG00000061938","omim":"606994","loci":["3q29"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"23686771[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}