{"orpha":293181,"name":"Epilepsy of infancy with migrating focal seizures","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["EIMFS","Epilepsy with migrating focal seizure in infancy","MMPEI","MMPSI","MPEI","MPSI","Malignant migrating partial epilepsy of infancy","Malignant migrating partial seizures of infancy","Migrating partial epilepsy of infancy","Migrating partial seizures of infancy"],"definition":"A rare epileptic and developmental encephalopathy characterized by seizure onset during the first months of life, focal seizures arising independently in both hemispheres, marked drug resistance, and severe, long-term cognitive disability.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-293181/","orphanet_url":"https://www.orpha.net/en/disease/detail/293181","names":{"fr":{"name":"Epilepsie du nourrisson avec crises focales migrantes","synonyms":["EIMFS","Epilepsie avec crises partielles migrantes malignes","Epilepsie focale migrante","Epilepsie partielle migrante","MMPEI","MMPSI","MPEI","MPSI"],"definition":"Encéphalopathie développementale rare avec épilepsie caractérisée par l'apparition de crises épileptiques dans les premiers mois de vie et de crises focales prenant origine de manière indépendante dans les deux hémisphères, et marquée par une pharmacorésistance et des troubles cognitifs sévères de long terme."},"de":{"name":"Maligne migrierende Partialepilepsie des Kindes","synonyms":["MPEI","MPSI","Partialepilepsie, infantile maligne migrierende","Säuglingsepilepsie mit wandernden Teilanfällen","EIMFS","Epilepsie im Kindesalter mit wandernden fokalen Anfällen","MMPEI","MMPSI"],"definition":"Eine seltene epileptische und entwicklungsbedingte Enzephalopathie, die durch einen Anfallsbeginn in den ersten Lebensmonaten, fokale Anfälle, die unabhängig voneinander in beiden Hemisphären auftreten, eine ausgeprägte Arzneimittelresistenz und eine schwere, langfristige kognitive Behinderung gekennzeichnet ist."},"es":{"name":"Epilepsia del lactante con crisis focales migratorias","synonyms":["Crisis parciales migratorias del lactante","Crisis parciales migratorias malignas del lactante","EIMFS","Epilepsia con crisis focales migratorias del lactante","Epilepsia de la infancia con crisis focales migratorias","Epilepsia parcial migratoria del lactante","Epilepsia parcial migratoria maligna del lactante"],"definition":"Es una encefalopatía epiléptica y del desarrollo poco frecuente caracterizada por el inicio durante los primeros meses de vida, de crisis focales que surgen de forma independiente en ambos hemisferios, marcada fármacorresistencia y discapacidad cognitiva grave a largo plazo."},"it":{"name":"Epilessia infantile con convulsioni parziali migranti","synonyms":["Convulsioni parziali migranti maligne dell'infanzia","Epilessia parziale migrante dell'infanzia","MPEI","MPSI","EIMFS","Epilessia dell'infanzia con convulsioni focali migranti","Epilessia con convulsioni focali migranti nell'infanzia","MMPEI","MMPSI","Epilessia parziale migrante maligna dell'infanzia","Convulsioni parziali migranti dell'infanzia","Epilessia con convulsioni parziali migranti dell'infanzia"],"definition":"Si tratta di un'encefalopatia epilettica e dello sviluppo rara, caratterizzata da crisi epilettiche che esordiscono nei primi mesi di vita, crisi focali che si manifestano indipendentemente in entrambi gli emisferi, marcata resistenza ai farmaci e grave disabilità cognitiva a lungo termine."},"nl":{"name":"Epilepsie bij zuigeling met migrerende focale insulten","synonyms":["EIMFS","Epilepsie met migrerende focale epileptische aanvallen op zuigelingenleeftijd","MMPEI","MMPSI","MPEI","MPSI","Maligne migrerende partiële epilepsie op zuigelingenleeftijd","Maligne migrerende partiële insulten op zuigelingenleeftijd","Migrerende partiële epilepsie op zuigelingenleeftijd","Migrerende partiële epileptische aanvallen op zuigelingenleeftijd"],"definition":"Een zeldzame ontwikkelingsachterstand en epileptische encefalopathie, gekenmerkt door aanvang van insulten tijdens de eerste levensmaanden, focale insulten die onafhankelijk van elkaar ontstaan in beide hersenhelften, opmerkelijke resistentie tegen geneesmiddelen, en ernstige en langdurige cognitieve beperking."},"pt":{"name":"Convulsões focais migratórias malignas da infância","synonyms":["Convulsões parciais migratórias da infância","Convulsões parciais migratórias malignas da infância","Epilepsia parcial migratória da infância","Epilepsia parcial migratória maligna da infância","MPEI","MPSI"],"definition":"Encefalopatia epiléptica e do desenvolvimento rara caracterizada por crises iniciais durante os primeiros meses de vida, crises focais que surgem independentemente em ambos os hemisférios, resistência marcada aos medicamentos e deficiência cognitiva grave e permanente."},"pl":{"name":"Padaczka niemowlęca z napadami ogniskowymi wędrującymi","synonyms":["Migrująca padaczka częściowa niemowląt","Migrujące napady częściowe niemowląt","MMPEI","MMPSI","MPEI","MPSI","Złośliwa migrująca padaczka częściowa niemowląt"]},"cs":{"name":"Maligní migrující parciální záchvaty u kojenců","synonyms":["MMPEI","MMPSI","MPEI","MPSI","Maligní migrující parciální epilepsie u kojenců","Migrující parciální epilepsie u kojenců","Migrující parciální záchvaty u kojenců"]},"uk":{"name":"Злоякісні мігруючі фокальні судоми у немовлят","synonyms":["Дитяча епілепсія з мігруючими фокальними нападами","Злоякісна мігруюча парціальна епілепсія дитячого віку","Злоякісні мігруючі парціальні епілептичні напади немовлят","Мігруюча парціальна епілепсія немовлят","Мігруючі парціальні напади у немовлят","MMPEI","MMPSI","MPEI","MPSI"],"definition":"A rare epileptic and developmental encephalopathy characterized by seizure onset during the first months of life, focal seizures arising independently in both hemispheres, marked drug resistance, and severe, long-term cognitive disability."},"zh":{"name":"婴儿期恶性迁移性灶性癫痫","synonyms":["婴儿期恶性迁移性灶性惊厥"],"definition":"一种罕见的遗传性新生儿癫痫综合征，特征是在生后前6个月内持续的移行性多形局灶性癫痫发作，并伴相应的多灶性发作性脑电放电，精神运动发育逐渐恶化，常早期死亡。"},"tr":{"name":"Süt çocuğunda habis göç eden fokal nöbetler","synonyms":["MPEI","MPSI","MMPEI","MMPSI","Gezici bebeklik döneminin kısmi epilepsisi","Gezici bebeklik döneminin kısmi nöbetleri","Habis gezici kısmi bebeklik epilepsisi","Habis gezici kısmi bebeklik nöbetleri","Gezici fokal nöbetler ile seyreden bebeklik epilepsisi"]}},"xrefs":[{"source":"OMIM","code":"613722","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614959","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615338","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616645","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A61.12","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1727727812"},{"source":"MONDO","code":"0017385","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3494976","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12919","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10086114","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":182083,"name":"Channelopathy with epilepsy","classifications":[156,181]},{"orpha":693802,"name":"Neonatal/infantile-onset epilepsy syndrome","classifications":[156,181]},{"orpha":98744,"name":"Neurological channelopathy of the central nervous system due to a genetic sodium channel defect","classifications":[156]}],"children":[],"genes":[{"symbol":"KCNT1","name":"potassium sodium-activated channel subfamily T member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"23086397[PMID]","hgnc":"18865","ensembl":"ENSG00000107147","omim":"608167","loci":["9q34.3"]},{"symbol":"SLC12A5","name":"solute carrier family 12 member 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26333769[PMID]","hgnc":"13818","ensembl":"ENSG00000124140","omim":"606726","loci":["20q13.12"]},{"symbol":"TBC1D24","name":"TBC1 domain family member 24","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23526554[PMID]","hgnc":"29203","ensembl":"ENSG00000162065","omim":"613577","loci":["16p13.3"]},{"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":"31618474[PMID]","hgnc":"6296","ensembl":"ENSG00000075043","omim":"602235","loci":["20q13.33"]},{"symbol":"PIGA","name":"phosphatidylinositol glycan anchor biosynthesis class A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31618474[PMID]","hgnc":"8957","ensembl":"ENSG00000165195","omim":"311770","loci":["Xp22.2"]},{"symbol":"PLCB1","name":"phospholipase C beta 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22690784[PMID]","hgnc":"15917","ensembl":"ENSG00000182621","omim":"607120","loci":["20p12.3"]},{"symbol":"SCN1A","name":"sodium voltage-gated channel alpha subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21555645[PMID]_20301494[PMID]","hgnc":"10585","ensembl":"ENSG00000144285","omim":"182389","loci":["2q24.3"]},{"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":"31618474[PMID]","hgnc":"10588","ensembl":"ENSG00000136531","omim":"182390","loci":["2q24.3"]},{"symbol":"SLC25A22","name":"solute carrier family 25 member 22","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24596948[PMID]","hgnc":"19954","ensembl":"ENSG00000177542","omim":"609302","loci":["11p15.5"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":114.0,"area":"Worldwide","status":"Validated","source":"19469847[PMID]_23086397[PMID]_23599387[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_235999387[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.11,"area":"United Kingdom","status":"Validated","source":"23599387[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.4,"area":"United Kingdom","status":"Validated","source":"235999387[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-01-20","source":"34114611[PMID]","terms":[{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010841","label":"Multifocal epileptiform discharges","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","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:0002059","label":"Cerebral atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010821","label":"Focal emotional seizure with laughing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006813","label":"Focal hemiclonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002384","label":"Focal impaired awareness seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032794","label":"Myoclonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001273","label":"Abnormal corpus callosum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031834","label":"Aortopulmonary collateral arteries","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012448","label":"Delayed myelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011097","label":"Epileptic spasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002521","label":"Hypsarrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Very rare (<4-1%)","criteria":null}]}}