{"orpha":306,"name":"Self-limited infantile epilepsy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["BFIE","BFIS","Benign familial infantile convulsions","Benign familial infantile epilepsy","Benign familial infantile seizures","SeLIE"],"definition":"A rare genetic epilepsy syndrome characterized by repeated brief focal seizures occurring between 3 and 20&nbsp;months of age, typically peaking around 6 months.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-306/","orphanet_url":"https://www.orpha.net/en/disease/detail/306","names":{"fr":{"name":"Epilepsie infantile autolimitée","synonyms":["BFIE","BFIS","Convulsions infantiles familiales bénignes","EIFB","Epilepsie infantile familiale bénigne","SeLIE","Epilepsie autolimitée de l'enfance"],"definition":"L'épilepsie infantile familiale bénigne (EIFB) est un syndrome épileptique génétique caractérisé par la survenue de crises répétées afébriles chez des nourrissons sains, entre le troisième et le huitième mois."},"de":{"name":"Selbstlimitierende infantile Epilepsie","synonyms":["BFIE","BFIS","Benigne familiäre Epilepsie des Kindesalters","Benigne familiäre infantile Krampfanfälle","SeLIE"],"definition":"Die Benigne familiäre infantile Epilepsie (BFIE) ist ein erblich-epileptisches Syndrom, das durch das Auftreten von wiederholten fieberfreien Anfällen bei gesunden Säuglingen zwischen dem dritten und achten Lebensmonat gekennzeichnet ist."},"es":{"name":"Epilepsia infantil autolimitada","synonyms":["Convulsiones benignas infantiles familiares","Crisis benignas infantiles familiares","Epilepsia benigna infantil familiar","SeLIE"],"definition":"La epilepsia infantil benigna familiar (BFIE) es un síndrome epiléptico genético que se caracteriza por la aparición de repetidas convulsiones febriles en niños sanos, entre el tercer y octavo mes de vida."},"it":{"name":"Epilessia infantile autolimitante","synonyms":["Epilessia infantile familiare benigna","SeLIE","BFIE","BFIS","Convulsioni infantili familiari benigne","Crisi infantili familiari benigne"],"definition":"L'epilessia infantile familiare benigna (BFIE) è una sindrome epilettica genetica caratterizzata dalla comparsa di crisi epilettiche ripetute afebbrili in bambini sani, tra il terzo e l'ottavo mese di vita."},"nl":{"name":"Zelflimiterende infantiele epilepsie","synonyms":["BFIE","BFIS","Benigne familiaire infantiele epilepsie","Goedaardige familiale infantiele convulsies","Goedaardige familiale infantiele epilepsie","Goedaardige familiale infantiele insulten","SeLIE"],"definition":"Goedaardige familiale infantiele epilepsie (BFIE) is een genetisch epileptisch syndroom dat wordt gekarakteriseerd door koortsvrije herhaaldelijke insulten in gezonde zuigelingen tussen de derde en achtste levensmaand."},"pt":{"name":"Epilepsia infantil auto-limitada","synonyms":["BFIS","BFIE","Convulsões benignas infantis familiares","Epilepsia benigna infantil familiar","SeLIE"]},"pl":{"name":"Samoograniczająca się padaczka niemowlęca","synonyms":["BFIE","BFIS","Łagodne rodzinne drgawki dziecięce","Łagodne rodzinne konwulsje dziecięce"]},"cs":{"name":"Benigní familiární infantilní epilepsie","synonyms":["BFIE","BFIS","Benigní familiární infantilní záchvaty","Benigní familiární infantilní křeče"]},"uk":{"name":"Доброякісна сімейна інфантильна епілепсія","synonyms":["Доброякісні сімейні дитячі напади","Доброякісні сімейні дитячі судоми","BFIE","BFIS"],"definition":"Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life."},"zh":{"name":"良性家族性婴幼儿癫痫","synonyms":["良性家族性婴儿惊厥"]},"tr":{"name":"Selim ailesel infantil epilepsi","synonyms":["BFIE","BFIS","Selim ailesel infantil nöbetler","Selim ailesel infantil konvülsiyonlar"]}},"xrefs":[{"source":"OMIM","code":"601764","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"602066","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"605751","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"607745","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612627","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617080","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A61.10","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1944845279"},{"source":"MONDO","code":"0017615","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5575231","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"857","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":31709,"name":"Infantile convulsions and choreoathetosis","status":"inactive"},{"type":"Moved to","orpha":166295,"name":"Benign non-familial infantile seizures","status":"inactive"},{"type":"Moved to","orpha":166299,"name":"Benign partial epilepsy of infancy with complex partial seizures","status":"inactive"},{"type":"Moved to","orpha":166302,"name":"Benign partial epilepsy with secondarily generalized seizures in infancy","status":"inactive"},{"type":"Moved to","orpha":166308,"name":"Benign infantile focal epilepsy with midline spikes and waves during sleep","status":"inactive"},{"type":"Moved to","orpha":166311,"name":"Benign partial infantile seizures","status":"inactive"}],"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":"SCN8A","name":"sodium voltage-gated channel alpha subunit 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"26677014[PMID]","hgnc":"10596","ensembl":"ENSG00000196876","omim":"600702","loci":["12q13.13"]},{"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":null,"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":"23360469[PMID]","hgnc":"6297","ensembl":"ENSG00000184156","omim":"602232","loci":["8q24.22"]},{"symbol":"PRRT2","name":"proline rich transmembrane protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22243967[PMID]_22399141[PMID]_22623405[PMID]","hgnc":"30500","ensembl":"ENSG00000167371","omim":"614386","loci":["16p11.2"]},{"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":"23360469[PMID]","hgnc":"10588","ensembl":"ENSG00000136531","omim":"182390","loci":["2q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":14.2,"area":"United Kingdom","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-10-14","source":"29334453[PMID]_29764460[PMID]_26598493[PMID]_25658216[PMID]_24370076[PMID]_29334453[PMID]_29285950[PMID]","terms":[{"hpo":"HP:0032807","label":"Neonatal seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002372","label":"Normal interictal EEG","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002104","label":"Apnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002305","label":"Athetosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007334","label":"Bilateral tonic-clonic seizure with focal onset","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001266","label":"Choreoathetosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002266","label":"Focal clonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032755","label":"Focal impaired awareness autonomic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002384","label":"Focal impaired awareness seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011153","label":"Focal motor seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011167","label":"Focal tonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011169","label":"Generalized clonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010818","label":"Generalized tonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004305","label":"Involuntary movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007166","label":"Paroxysmal dyskinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011172","label":"Complex febrile seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012002","label":"Experiential epileptic aura","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032678","label":"Eyelid myoclonia seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032906","label":"Focal head nodding automatism seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002121","label":"Generalized non-motor (absence) seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045084","label":"Limb myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032823","label":"Neonatal electro-clinical seizure with behavior arrest","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011182","label":"Interictal epileptiform activity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011171","label":"Simple febrile seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002133","label":"Status epilepticus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0410263","label":"Brain imaging abnormality","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002361","label":"Psychomotor deterioration","frequency":"Excluded (0%)","criteria":null}]}}