{"orpha":163717,"name":"Familial mesial temporal lobe epilepsy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FLTLE"],"definition":"Benign familial mesial temporal lobe epilepsy is a rare epilepsy characterized by seizures with viscerosensory or experential auras, onset in adolescence or early adulthood and good prognosis. It is defined as at least 24 months of seizure freedom with or without antiepileptic medication.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-163717/","orphanet_url":"https://www.orpha.net/en/disease/detail/163717","names":{"fr":{"name":"Epilepsie temporale mésiale familiale","synonyms":["FLTLE"],"definition":"Épilepsie rare caractérisée par des crises accompagnées d'aura viscéro-sensorielle ou sous forme de troubles de la perception, dont les symptômes apparaissent à l'adolescence ou au début de l'âge adulte et dont le pronostic est favorable. Elle est diagnostiquée après au moins 24 mois sans crise, avec ou sans médicaments antiépileptiques."},"de":{"name":"Temporallappenepilepsie, mesiale, familiäre Form","synonyms":["FLTLE"]},"es":{"name":"Epilepsia del lóbulo temporal mesial familiar","synonyms":["ELTM familiar"],"definition":"Es una epilepsia poco frecuente caracterizada por crisis con auras viscerosensoriales o experienciales de inicio en la adolescencia o en la edad adulta temprana y de buen pronóstico. Se diagnostica en base a al menos 24 meses libres de crisis con o sin medicación antiepiléptica."},"it":{"name":"Epilessia familiare benigna del lobo temporale mesiale","definition":"L'epilessia familiare benigna del lobo temporale mesiale è un'epilessia rara caratterizzata da crisi con aura viscerosensoriale o esperienziale, che esordiscono durante l'adolescenza o all'inizio dell'età adulta. La prognosi è buona. La diagnosi si basa sull'assenza delle crisi epilettiche per almeno 24 mesi, con o senza l'assunzione di farmaci antiepilettici."},"nl":{"name":"Familiale mesiale temporaalkwabepilepsie","synonyms":["FLTLE"],"definition":"Goedaardige familiale mesiale temporaalkwabepilepsie is een zeldzame epilepsie die gekarakteriseerd wordt door insulten met viscerosensorische of experiëntiële aura's, aanvang in de adolescentie of vroege volwassenheid, en een goede prognose. Het wordt gedefinieerd als minstens 24 maanden zonder insulten met of zonder gebruik van anti-epileptica."},"pt":{"name":"Epilepsia do lobo temporal mesial familiar","synonyms":["FLTLE"]},"pl":{"name":"Łagodna rodzinna padaczka przyśrodkowej części płata skroniowego","synonyms":["FLTLE"],"definition":"*Łagodna rodzinna padaczka przyśrodkowej części płata skroniowego jest rzadkim typem padaczki, który charakteryzuje się napadami drgawkowymi, poprzedzonymi aurą trzewno-czuciową lub w postaci zaburzeń postrzegania, początkiem objawów w okresie dojrzewania lub wczesnej dorosłości oraz dobrym rokowaniem. Rozpoznaje się ją po co najmniej 24 miesiącach bez napadów, przy stosowaniu lub bez leków przeciwpadaczkowych."},"cs":{"name":"Benigní familiární epilepsie meziálního temporálního laloku","synonyms":["FLTLE"]},"uk":{"name":"Доброякісна сімейна мезіальна скронева епілепсія","synonyms":["Доброякісний FMTLE"],"definition":"Benign familial mesial temporal lobe epilepsy is a rare epilepsy characterized by seizures with viscerosensory or experential auras, onset in adolescence or early adulthood and good prognosis. It is defined as at least 24 months of seizure freedom with or without antiepileptic medication."},"zh":{"name":"良性家族性近中颞叶癫痫","synonyms":["良性FMTLE"],"definition":"良性家族性颞叶内侧癫痫是一种罕见的癫痫，其特征是具有内脏感觉或经验性先兆的惊厥青春期或成年早期起病，预后良好。该病被定义为在服用或不服用抗癫痫药物的情况下，至少有24个月无癫痫发作。"},"tr":{"name":"Selim ailesel mezyal temporal lob epilepsisi","synonyms":["Selim FMTLE"]}},"xrefs":[{"source":"OMIM","code":"611630","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614417","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615697","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A61.4Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1309474615"},{"source":"MONDO","code":"0015586","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749273","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":"CPA6","name":"carboxypeptidase A6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"21922598[PMID]","hgnc":"17245","ensembl":"ENSG00000165078","omim":"609562","loci":["8q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}