{"orpha":98784,"name":"Sleep-related hypermotor epilepsy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ADNFLE","Autosomal dominant nocturnal frontal lobe epilepsy","Autosomal dominant sleep-related hypermotor epilepsy","SHE"],"definition":"A rare seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98784/","orphanet_url":"https://www.orpha.net/en/disease/detail/98784","names":{"fr":{"name":"Epilepsie avec crises hypermotrices liées au sommeil","synonyms":["ADNFLE","Epilepsie frontale à crises nocturnes autosomique dominante","Epilepsie hypermotrice du sommeil autosomique dominante","SHE"],"definition":"Trouble épileptique rare caractérisé par une dystonie intermittente et/ou des mouvements choréo-athétoïdes survenant pendant le sommeil. Les crises motrices en séries de survenue nocturne sont le plus souvent stéréotypées et brèves."},"de":{"name":"Schlafassoziierte hypermotorische Epilepsie","synonyms":["ADNFLE","Autosomal-dominante Schlafassoziierte hypermotorische Epilepsie","Autosomal-dominante nächtliche Frontallappenepilepsie","SHE"],"definition":"Eine seltene Anfallserkrankung, die durch intermittierende Dystonien und/oder choreoathetoide Bewegungen gekennzeichnet ist, die während des Schlafes auftreten. Die Cluster der nächtlichen motorischen Anfälle sind oft stereotyp und kurz."},"es":{"name":"Epilepsia hipermotora asociada al sueño","synonyms":["ADNFLE","Epilepsia del lóbulo frontal nocturna autosómica dominante","Epilepsia hipermotora asociada al sueño autosómica dominante"],"definition":"Es un trastorno epiléptico poco frecuente caracterizado por distonía intermitente y/o movimientos coreoatetósicos que ocurren durante el sueño. Los acúmulos de crisis motoras nocturnas son a menudo estereotipados y breves."},"it":{"name":"Epilessia notturna del lobo frontale autosomica dominante","synonyms":["ADNFLE"],"definition":"L'epilessia notturna del lobo frontale autosomica dominante (ADNFLE) è una forma rara di epilessia caratterizzata da distonia intermittente e/o movimenti coreo-atetosici che si manifestano durante il sonno. Le crisi motorie notturne sono spesso stereotipate e brevi."},"nl":{"name":"Slaapgerelateerde hypermotorische epilepsie","synonyms":["ADNFLE","Autosomaal dominante nachtelijke frontaalkwabepilepsie","Autosomaal dominante slaapgerelateerde hypermotorische epilepsie","SHE"],"definition":"Een zeldzame stoornis met insulten die wordt gekarakteriseerd door periodieke dystonie en/of choreoathetoïde bewegingen die voorkomen tijdens de slaap. De clusters van nachtelijke motorische convulsies zijn vaak stereotiep en van korte duur."},"pt":{"name":"Epilepsia noturna do lobo frontal autossómica dominante"},"pl":{"name":"Autosomalna dominująca padaczka nocna płata czołowego","synonyms":["ADNFLE"]},"cs":{"name":"Autozomálně dominantní noční epilepsie frontálního laloku","synonyms":["ADNFLE"]},"uk":{"name":"Аутосомно-домінантна нічна лобна епілепсія","synonyms":["ADNFLE","Аутосомно-домінантна гіпермоторна епілепсія, повязана зі сном"],"definition":"A rare seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief."},"zh":{"name":"常染色体显性遗传夜间额叶癫痫","synonyms":["常染色体显性遗传睡眠相关过度运动性癫痫"],"definition":"一种罕见的癫痫，特征是睡眠时出现间歇性肌张力障碍和/或舞蹈样动作，夜间运动性癫痫丛集性发作通常刻板而短暂。"},"tr":{"name":"Otozomal dominant noktürnal frontal lob epilepsisi","synonyms":["ADNFLE","Otozomal dominant uyku-ilişkili hipermotor epilepsi"]}},"xrefs":[{"source":"OMIM","code":"600513","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"603204","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"605375","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610353","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615005","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":"1004734747"},{"source":"MONDO","code":"0020300","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C579932","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3696898","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"11918","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":98125,"name":"OBSOLETE: Channelopathy due to a neuronal acetylcholine receptor defect","status":"inactive"},{"type":"Moved to","orpha":98812,"name":"Paroxysmal hypnogenic dyskinesia","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98748,"name":"Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect","classifications":[156]},{"orpha":98746,"name":"Neurological channelopathy of the central nervous system due to a genetic potassium channel defect","classifications":[156]},{"orpha":699645,"name":"Variable age-onset epilepsy syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"DEPDC5","name":"DEP domain containing 5, GATOR1 subcomplex subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23542697[PMID]_23542701[PMID]","hgnc":"18423","ensembl":"ENSG00000100150","omim":"614191","loci":["22q12.2-q12.3"]},{"symbol":"CABP4","name":"calcium binding protein 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29108277[PMID]","hgnc":"1386","ensembl":"ENSG00000175544","omim":"608965","loci":["11q13.2"]},{"symbol":"CHRNA2","name":"cholinergic receptor nicotinic alpha 2 subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16826524[PMID]_20301348[PMID]","hgnc":"1956","ensembl":"ENSG00000120903","omim":"118502","loci":["8p21.2"]},{"symbol":"CHRNA4","name":"cholinergic receptor nicotinic alpha 4 subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"7550350[PMID]_20301348[PMID]","hgnc":"1958","ensembl":"ENSG00000101204","omim":"118504","loci":["20q13.33"]},{"symbol":"CHRNB2","name":"cholinergic receptor nicotinic beta 2 subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11062464[PMID]_20301348[PMID]","hgnc":"1962","ensembl":"ENSG00000160716","omim":"118507","loci":["1q21.3"]},{"symbol":"CRH","name":"corticotropin releasing hormone","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16222669[PMID]_20301348[PMID]","hgnc":"2355","ensembl":"ENSG00000147571","omim":"122560","loci":["8q13.1"]},{"symbol":"KCNT1","name":"potassium sodium-activated channel subfamily T member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23086396[PMID]","hgnc":"18865","ensembl":"ENSG00000107147","omim":"608167","loci":["9q34.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"20301348[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-03-04","source":"25194481[PMID]_20301348[PMID]_30234941[PMID]","terms":[{"hpo":"HP:0031951","label":"Nocturnal seizures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004305","label":"Involuntary movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002268","label":"Paroxysmal dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025237","label":"Confusional arousal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011193","label":"EEG with focal spikes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011174","label":"Hyperkinetic seizures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002883","label":"Hyperventilation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031535","label":"Increased theta frequency activity in EEG","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011182","label":"Interictal epileptiform activity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025236","label":"Somnambulism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031589","label":"Suicidal ideation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Very rare (<4-1%)","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:0001256","label":"Intellectual disability, mild","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0025235","label":"Non-rapid eye movement parasomnia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001345","label":"Psychotic mentation","frequency":"Very rare (<4-1%)","criteria":null}]}}