{"orpha":101046,"name":"Epilepsy with auditory features","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ADEAF","ADLTE","ADPEAF","Autosomal dominant epilepsy with auditory features","Autosomal dominant lateral temporal lobe epilepsy","EAF","Partial epilepsy with auditory aura","Partial epilepsy with auditory features"],"definition":"A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-101046/","orphanet_url":"https://www.orpha.net/en/disease/detail/101046","names":{"fr":{"name":"Epilepsie avec manifestations auditives","synonyms":["ADEAF","ADLTE","EAF","Epilepsie autosomique dominante avec aura auditive","Epilepsie du lobe temporal latéral autosomique dominante","Epilepsie partielle avec aura auditives"],"definition":"Épilepsie partielle familiale rare d'origine génétique, caractérisée par des crises focales associées à d'importants symptômes ictaux auditifs, et/ou une aphasie réceptive, se manifestant chez deux ou plusieurs membres de la famille et dont l'évolution est relativement bénigne."},"de":{"name":"Epilepsie mit akustischen Merkmalen","synonyms":["ADFEAM","ADLTE","ADPEAF","Autosomal-dominante Epilepsie mit akustischen Merkmalen","EAF","Partialepilepsie mit akustischen Auren","Temporallappen-Epilepsie, laterale, autosomal-dominante"],"definition":"Eine seltene, genetisch bedingte, familiäre partielle Epilepsie, die durch fokale Anfälle in Verbindung mit ausgeprägten iktalen auditorischen Symptomen und/oder rezeptiver Aphasie gekennzeichnet ist und einen relativ gutartigen Verlauf aufweist."},"es":{"name":"Epilepsia con características auditivas","synonyms":["ADEAF","ADLTE","ADPEAF","Epilepsia con características auditivas autosómica dominante","Epilepsia lateral del lóbulo temporal autosómica dominante","Epilepsia parcial con aura auditiva","Epilepsia parcial con características auditivas"],"definition":"Es una enfermedad genética y poco frecuente de epilepsia parcial familiar caracterizada por crisis focales asociadas a importantes síntomas auditivos ictales y/o afasia receptiva, que se presentan en dos o más miembros de una familia , y tiene una evolución relativamente benigna."},"it":{"name":"Epilessia autosomica dominante con segni uditivi","synonyms":["ADEAF","ADLTE","ADPEAF","Epilessia del lobo temporale, autosomica dominante","Epilessia parziale con aura uditiva","Epilessia parziale con segni uditivi"],"definition":"L'epilessia autosomica dominante con componente acustica (ADEAF) è un'epilessia genetica familiare parziale rara, caratterizzata da crisi focali associate a sintomi uditivi ictali e/o afasia recettiva, che colpisce due o più membri di una famiglia. L'evoluzione è relativamente benigna."},"nl":{"name":"Epilepsie met auditieve kenmerken","synonyms":["ADEAF","ADLTE","ADPEAF","Autosomaal dominante epilepsie met auditieve kenmerken","Autosomaal dominante laterale temporaalkwabepilepsie","EAF","Partiële epilepsie met auditieve aura","Partiële epilepsie met auditieve kenmerken"],"definition":"Een zeldzame, genetische, familiale partiële epilepsie die gekarakteriseerd wordt door focale insulten geassocieerd met duidelijke ictale auditieve symptomen en/of receptieve afasie, die voorkomt bij twee of meer familieleden, en die een relatief goedaardige evolutie vertoont."},"pt":{"name":"Epilepsia com características auditivas","synonyms":["ADEAF","ADLTE","ADPEAF","EAF","Epilepsia com características auditivas autossómica dominante","Epilepsia do lobo temporal lateral autossómica dominante","Epilepsia parcial com aura auditiva","Epilepsia parcial com características auditivas"]},"pl":{"name":"Autosomalna dominująca padaczka z objawami słuchowymi","synonyms":["ADEAF","ADLTE","ADPEAF","Autosomalna dominująca padaczka bocznego płata skroniowego","Padaczka częściowa z aurą słuchową","Padaczka częściowa z objawami słuchowymi"]},"cs":{"name":"Autozomálně dominantní epilepsie se sluchovými rysy","synonyms":["ADEAF","ADLTE","ADPEAF","Autozomálně dominantní epilepsie laterálního temporálního laloku","Částečná epilepsie se sluchovou aurou","Částečná epilepsie se sluchovými rysy"]},"uk":{"name":"Аутосомно-домінантна епілепсія зі слуховими ознаками","synonyms":["ADEAF","ADLTE","ADPEAF","Аутосомно-домінантна латеральна скронева епілепсія","Парціальна епілепсія зі слуховою аурою","Парціальна епілепсія зі слуховими ознаками"],"definition":"A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution."},"zh":{"name":"常染色体显性遗传癫痫伴听觉症状","synonyms":["常染色体显性遗传颞叶外侧癫痫"],"definition":"常染色体显性遗传性癫痫伴有听觉特征是一种罕见的遗传性家族性部分癫痫疾病，特征是局灶性癫痫发作，伴有明显的发作性听觉症状，和/或接受性失语，出现在两个或多个家庭成员中，并有相对良性的演变"},"tr":{"name":"İşitsel özelliklere sahip otozomal dominant epilepsi","synonyms":["ADEAF","ADLTE","ADPEAF","İşitsel auralı kısmi epilepsi","İşitsel özellikler ile seyreden kısmi epilepsi","Otozomal dominant lateral temporal lob epilepsisi"]}},"xrefs":[{"source":"OMIM","code":"600512","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"616436","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616461","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A61.3Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"832717248"},{"source":"MONDO","code":"0010898","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537297","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1838062","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2257","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":699645,"name":"Variable age-onset epilepsy syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"LGI1","name":"leucine rich glioma inactivated 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"12601709[PMID]_20301709[PMID]","hgnc":"6572","ensembl":"ENSG00000108231","omim":"604619","loci":["10q23.33"]},{"symbol":"MICAL1","name":"microtubule associated monooxygenase, calponin and LIM domain containing 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29394500[PMID]","hgnc":"20619","ensembl":"ENSG00000135596","omim":"607129","loci":["6q21"]},{"symbol":"RELN","name":"reelin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26046367[PMID]","hgnc":"9957","ensembl":"ENSG00000189056","omim":"600514","loci":["7q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20301709[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-03-16","source":"27683934[PMID]_29179159[PMID]_20301709[PMID]","terms":[{"hpo":"HP:0008765","label":"Auditory hallucinations","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011185","label":"EEG with focal epileptiform discharges","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011182","label":"Interictal epileptiform activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012332","label":"Abnormal autonomic nervous system physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011154","label":"Focal autonomic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002349","label":"Focal aware seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031951","label":"Nocturnal seizures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002367","label":"Visual hallucinations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007334","label":"Bilateral tonic-clonic seizure with focal onset","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002197","label":"Generalized-onset seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100710","label":"Impulsivity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0410263","label":"Brain imaging abnormality","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Excluded (0%)","criteria":null}]}}