{"orpha":140927,"name":"Self-limited neonatal/infantile epilepsy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["BFNIS","Benign familial neonatal-infantile seizures","Benign neonatal-infantile epilepsy","SeLFNIE"],"definition":"A rare neonatal/infantile-onset epilepsy syndrome characterized by brief focal seizures between the first days and six months of life in otherwise healthy infants. Seizures often occur in clusters and may include motor symptoms and autonomic signs (including apnea and cyanosis). Occasionally generalized seizures are present. Typically, seizures resolve spontaneously without causing any long-term neurological effects.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-140927/","orphanet_url":"https://www.orpha.net/en/disease/detail/140927","names":{"fr":{"name":"Epilepsie néonatale/infantile autolimitée","synonyms":["Convulsions néonatales-infantiles bénignes familiales","Epilepsie néonatale-infantile bénigne","SeLFNIE"],"definition":"Syndrome épileptique néonatal-infantile rare caractérisé par de brèves crises focales survenant entre les premiers jours et les six premiers mois de vie chez des nourrissons par ailleurs en bonne santé. Les crises surviennent souvent par salves et peuvent s'accompagner de symptômes d'atteinte du système moteur et autonome (y compris d'apnée et de cyanose). Des crises généralisées sont parfois présentes. En général, les crises disparaissent spontanément sans provoquer de séquelles neurologiques à long terme."},"de":{"name":"Selbstlimitierende neonatale und infantile Epilepsie","synonyms":["BFNIS","Benigne familiäre neonatale und infantile Anfälle","Benigne neonatal-infantile Epilepsie","SeLFNIE"],"definition":"Ein seltenes neonatal-infantiles Epilepsiesyndrom, das durch kurze fokale Anfälle zwischen den ersten Lebenstagen und sechs Monaten bei ansonsten gesunden Säuglingen gekennzeichnet ist. Die Anfälle treten häufig in Gruppen auf und können motorische Symptome und autonome Anzeichen (einschließlich Apnoe und Zyanose) umfassen. Gelegentlich treten auch generalisierte Anfälle auf. In der Regel klingen die Anfälle spontan ab, ohne langfristige neurologische Auswirkungen zu haben."},"es":{"name":"Epilepsia neonatal/infantil autolimitada","synonyms":["BFNIS","Crisis benignas neonatales-infantiles familiares","Epilepsia benigna neonatal-infantil","SeLFNIE"],"definition":"Es un síndrome epiléptico poco frecuente, de inicio neonatal o en el periodo de lactancia, caracterizado por crisis focales breves entre los primeros días y los seis meses de vida en pacientes por lo demás sanos. Las crisis suelen presentarse en racimo y pueden incluir síntomas motores y signos autonómicos (como apnea y cianosis). Ocasionalmente, se presentan crisis generalizadas. Normalmente, las crisis se resuelven espontáneamente sin ocasionar efectos neurológicos a largo plazo."},"it":{"name":"Epilessia neonatale/infantile autolimitante","synonyms":["Convulsiomni neonatali-infantili famigliari benigne","SeLFNIE","SeLNE","BFNIS","Convulsioni benigne familiari neonatali-infantili","Epilessia neonatale-infantile benigna","Epilessia benigna familiare neonatale-infantile"]},"nl":{"name":"Zelflimiterende neonatale/infantiele epilepsie","synonyms":["BFNIS","Benigne familiaire neonatale-infantiele convulsies","Benigne familiaire neonatale-infantiele epileptische aanvallen","Goedaardige familiale neonatale-infantiele insulten","Goedaardige neonatale-infantiele epilepsie","SeLFNIE"],"definition":"Een zeldzaam neonataal-infantiel epilepsiesyndroom, gekenmerkt door korte focale insulten tussen de eerste dagen en de eerste zes maanden na de geboorte bij voor het overige gezonde zuigelingen. Insulten treden vaak op in clusters en omvatten mogelijk motorische symptomen en autonome verschijnselen (waaronder apneu en cyanose). Occasioneel zijn gegeneraliseerde insulten aanwezig. Doorgaans verdwijnen de insulten spontaan zonder langdurige neurologische effecten te veroorzaken."},"pt":{"name":"Convulsões benignas neonatais-infantis familiares","definition":"As convulsões benignas neonatais-infantis familiares (BFNIS) são uma síndrome de epilepsia familiar benigna com um fenótipo intermediário entre convulsões neonatais benignas familiares (BFNS) e convulsões infantis benignas familiares (BFIS; ver estes termos)."},"pl":{"name":"Samoograniczająca się padaczka noworodkowo-dziecięca","synonyms":["BFNIS","Łagodna padaczka noworodkowo-dziecięca"]},"cs":{"name":"Benigní familiární novorozenecké a infantilní křeče","synonyms":["BFNIS","Benigní novorozenecká a infantilní epilepsie"]},"uk":{"name":"Доброякісні сімейні неонатально-інфантильні судоми","synonyms":["Доброякісна неонатально-дитяча епілепсія","BFNIS"],"definition":"Benign familial neonatal-infantile seizures (BFNIS) is a benign familial epilepsy syndrome with an intermediate phenotype between benign familial neonatal seizures (BFNS) and benign familial infantile seizures (BFIS; see these terms). So far, this syndrome has been described in multiple members of 10 families. Age of onset in these BFNIS families varied from 2 days to 6 months, with spontaneous resolution in most cases before the age of 12 months. Like BFNS and BFIS, seizures in BFNIS generally occur in clusters over one or a few days with posterior focal seizure onset. BFNIS is caused by mutations in the <i>SCN2A</i> gene (2q24.3), encoding the voltage-gated sodium channel alpha-subunit Na(V)1.2. Transmission is autosomal dominant."},"zh":{"name":"良性家族性新生儿-婴儿痉挛","synonyms":["良性新生儿-婴儿癫痫"],"definition":"良性家族性新生儿-婴儿惊厥（BFNIS）是一种良性家族性癫痫综合征，其表型介于良性家族性新生儿惊厥（BFNS）和良性家族性婴儿惊厥（BFIS；见该词条）之间。目前为止，这种综合征已被10个家庭的多个成员描述。这些BFNIS家族的起病年龄从2天至6个月不等，大多数病例在12个月前自发消退。与BFNS和BFIS一样，BFNIS的癫痫发作通常在一天或几天内发生，随后伴局灶性癫痫发作。BFNIS是由编码电压门控钠通道α-亚单位Na（V）1.2的SCN2A基因（2q24.3）突变引起的。常染色体显性遗传。"},"tr":{"name":"Selim ailesel yenidoğan-infantil nöbetler","synonyms":["BFNIS","Selim yenidoğan-infantil epilepsi"]}},"xrefs":[{"source":"OMIM","code":"607745","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011904","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"11904","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5671283","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1518","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":166475,"name":"Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes","classifications":[156,181]},{"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]},{"orpha":98744,"name":"Neurological channelopathy of the central nervous system due to a genetic sodium 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":"23360469[PMID]","hgnc":"6296","ensembl":"ENSG00000075043","omim":"602235","loci":["20q13.33"]},{"symbol":"SCN2A","name":"sodium voltage-gated channel alpha subunit 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12243921[PMID]","hgnc":"10588","ensembl":"ENSG00000136531","omim":"182390","loci":["2q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"15048894[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_15048894[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-01-24","source":"26645390[PMID]_28379373[PMID]_31904126[PMID]","terms":[{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011193","label":"EEG with focal spikes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002266","label":"Focal clonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032807","label":"Neonatal seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032792","label":"Tonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002104","label":"Apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002131","label":"Episodic ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001350","label":"Slurred speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025401","label":"Staring gaze","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031491","label":"Continuous spike and waves during slow sleep","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Very rare (<4-1%)","criteria":null}]}}