{"orpha":1949,"name":"Self-limited neonatal epilepsy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["BFNS","Benign familial neonatal convulsions","Benign familial neonatal epilepsy","Benign familial neonatal seizures","SeLNE"],"definition":"A rare genetic epilepsy syndrome characterized by seizures onset typically in the first week of life, in otherwise healthy newborns, and usually resolving within the first year of life.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1949/","orphanet_url":"https://www.orpha.net/en/disease/detail/1949","names":{"fr":{"name":"Epilepsie néonatale autolimitée","synonyms":["BFNS","Convulsions néonatales bénignes familiales","Epilepsie néonatale bénigne familial","SeLNE"],"definition":"Syndrome épileptique rare d'origine génétique caractérisé par la survenue de crises généralement au cours de la première semaine de vie chez des nouveau-nés par ailleurs en bonne santé et disparaissant généralement au cours de la première année de vie."},"de":{"name":"Selbstlimitierende neonatale Epilepsie","synonyms":["BFNE","BFNS","Benigne familiäre Neugeborenenepilepsie","Krampfanfälle, benigne neonatale, familiäre Form","Neugeborenenkrämpfe, benigne familiäre","SeLNE"],"definition":"Ein seltenes genetisch bedingtes Epilepsiesyndrom, bei dem die Anfälle bei ansonsten gesunden Neugeborenen typischerweise in der ersten Lebenswoche beginnen und in der Regel innerhalb des ersten Lebensjahres wieder verschwinden."},"es":{"name":"Epilepsia neonatal autolimitada","synonyms":["Convulsiones benignas neonatales familiares","Crisis benignas neonatales familiares","Epilpesia benigna neonatal familiar"],"definition":"Es un síndrome de epilepsia genética poco frecuente caracterizado por crisis que suelen aparecen en la primera semana de vida, en recién nacidos por lo demás sanos, y que generalmente se resuelven durante el primer año de vida."},"it":{"name":"Epilessia neonatale autolimitante","synonyms":["Convulsioni neonatali familiari benigna","SeLNE","BFNS","Convulsioni neonatali familiari benigne","Epilessia neonatale familiare benigna"],"definition":"L'epilessia neonatale familiare benigna (BFNE) è una malattia epilettica genetica rara, caratterizzata da crisi epilettiche afebbrili che si manifestano nei neonati peraltro sani, nei primi giorni di vita."},"nl":{"name":"Zelflimiterende neonatale epilepsie","synonyms":["BFNS","Goedaardige familiale neonatale convulsies","Goedaardige familiale neonatale epilepsie","Goedaardige familiale neonatale insulten","SeLNE"],"definition":"Een zeldzaam genetisch epilepsiesyndroom, gekenmerkt door insulten die doorgaans optreden in de eerste week na de geboorte bij voor het overige gezonde neonaten, en die meestal binnen het eerste levensjaar verdwijnen."},"pt":{"name":"Epilepsia neonatal auto-limitada","synonyms":["BFNS","Convulsões neonatais benignas familiares","Epilepsia neonatal benigna familiar","SeLNE"]},"pl":{"name":"Łagodna rodzinna padaczka noworodkowa","synonyms":["BFNS","Łagodne rodzinne drgawki noworodkowe","Łagodne rodzinne konwulsje noworodkowe"]},"cs":{"name":"Benigní familiární neonatální epilepsie","synonyms":["BFNS","Benigní idiopatické novorozenecké záchvaty","BFNCC","Benigní neonatální familiární křeče"]},"uk":{"name":"Доброякісна сімейна неонатальна епілепсія","synonyms":["Доброякісні сімейні неонатальні напади","Доброякісні сімейні неонатальні судоми","BFNS"],"definition":"Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life."},"zh":{"name":"良性家族性新生儿癫痫","synonyms":["良性家族性新生儿抽搐"]},"tr":{"name":"Selim ailesel yenidoğan epilepsisi","synonyms":["BFNS","Selim ailesel yenidoğan nöbetleri","Selim ailesel yenidoğan konvülsiyonları"]}},"xrefs":[{"source":"OMIM","code":"121200","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"121201","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"269720","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"608217","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A61.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1948859880"},{"source":"MONDO","code":"0016027","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16027","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0220669","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1519","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10067866","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":64545,"name":"Benign idiopathic neonatal seizures","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":693802,"name":"Neonatal/infantile-onset epilepsy syndrome","classifications":[156,181]},{"orpha":98746,"name":"Neurological channelopathy of the central nervous system due to a genetic potassium channel defect","classifications":[156]}],"children":[],"genes":[{"symbol":"KCNQ2","name":"potassium voltage-gated channel subfamily Q member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20437616[PMID]_24375629[PMID]","hgnc":"6296","ensembl":"ENSG00000075043","omim":"602235","loci":["20q13.33"]},{"symbol":"KCNQ3","name":"potassium voltage-gated channel subfamily Q member 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24851285[PMID]_24375629[PMID]","hgnc":"6297","ensembl":"ENSG00000184156","omim":"602232","loci":["8q24.22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":272.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-05-25","source":"20437616[PMID]_31418850[PMID]_30782577[PMID]","terms":[{"hpo":"HP:0011188","label":"Focal EEG discharges with secondary generalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002266","label":"Focal clonic seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011167","label":"Focal tonic seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032807","label":"Neonatal seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002104","label":"Apnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032556","label":"Circumoral cyanosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002169","label":"Clonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011154","label":"Focal autonomic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010818","label":"Generalized tonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045084","label":"Limb myoclonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011468","label":"Facial tics","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011171","label":"Simple febrile seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031535","label":"Increased theta frequency activity in EEG","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002133","label":"Status epilepticus","frequency":"Very rare (<4-1%)","criteria":null}]}}