{"orpha":86909,"name":"Myoclonic epilepsy of infancy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Benign myoclonic epilepsy of infancy","Benign myoclonus epilepsy of infancy","MEI"],"definition":"A rare infantile epilepsy syndrome characterized by an infantile-onset of sudden, frequent and generalized myoclonic seizures that occur in neurologically and developmentally normal patients, and later resolve during childhood with a generally favorable outcome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-86909/","orphanet_url":"https://www.orpha.net/en/disease/detail/86909","names":{"fr":{"name":"Epilepsie myoclonique de l'enfance","synonyms":["Epilepsie myoclonique bénigne de l'enfance"],"definition":"Syndrome épileptique rare du nourrisson caractérisé par des crises myocloniques soudaines, fréquentes et généralisées, qui se résorbent pendant l'enfance et évoluent généralement de manière favorable, survenant chez des patients dont l'examen neurologique et du développement est par ailleurs normal."},"de":{"name":"Myoklonusepilepsie des Kindesalters","synonyms":["Benigne myoklonische Epilepsie des Kindesalters","MEI"],"definition":"Ein seltenes infantiles Epilepsiesyndrom, das durch plötzlich auftretende, häufige und generalisierte myoklonische Anfälle im Säuglingsalter gekennzeichnet ist, die bei neurologisch und entwicklungsmäßig normalen Patienten auftreten und später im Kindesalter mit einem im Allgemeinen günstigen Ausgang abklingen."},"es":{"name":"Epilepsia mioclónica del lactante","synonyms":["Epilepsia mioclónica benigna del lactante"],"definition":"Es un síndrome de epilepsia infantil poco frecuente caracterizado por un inicio en el período de lactante de crisis mioclónicas repentinas, frecuentes y generalizadas que ocurren en pacientes con un desarrollo y un estado neurológico normales y que remiten durante la infancia con un pronóstico generalmente favorable."},"it":{"name":"Epilessia mioclonica dell'infanzia","synonyms":["Epilessia mioclonica benigna dell'infanzia"],"definition":"Si tratta di un'epilessia infantile rara, caratterizzata da crisi miocloniche ad esordio infantile in pazienti normali dal punto di vista neurologico e dello sviluppo. La gravità delle scosse è variabile; possono essere isolate o raggruppate in serie, e insorgono spontaneamente oppure (più di rado) a seguito di stimoli sensoriali. Le crisi sono autolimitanti e si risolvono nell'arco di alcuni mesi o anni dall'esordio, sebbene i pazienti possano presentare successivamente crisi tonico-cloniche o altre forme di epilessia. Una percentuale significativa di pazienti presenta ritardo dello sviluppo e deficit cognitivi e comportamentali."},"nl":{"name":"Myoclonusepilepsie in de kinderjaren","synonyms":["Goedaardige myoclonische epilepsie in de kinderjaren","Goedaardige myoclonusepilepsie in de kinderjaren","MEI"],"definition":"Een zeldzaam infantiel epilepsiesyndroom, gekenmerkt door infantiele aanvang van plotse, frequente en gegeneraliseerde myoclonische insulten die optreden bij patiënten met een normale ontwikkeling en normale neurologische functies, en die later verdwijnen tijdens de kindertijd met een doorgaans gunstige uitkomst."},"pt":{"name":"Epilepsia mioclónica da infância","synonyms":["Epilepsia mioclónica benigna da infância"]},"pl":{"name":"Dziecięca padaczka miokloniczna","synonyms":["Dziecięca łagodna padaczka miokloniczna"]},"cs":{"name":"Myoklonická epilepsie u kojenců","synonyms":["Benigní myoklonická epilepsie kojenců"]},"uk":{"name":"Міоклонічна епілепсія раннього дитячого віку","synonyms":["Доброякісна міоклонічна епілепсія дитячого віку","Доброякісна міоклонусна епілепсія дитячого віку"],"definition":"A rare infantile epilepsy syndrome characterized by infancy-onset of myoclonic seizures in otherwise neurologically and developmentally normal patients. Jerks may vary in severity, can be singular or occur in a series, and occur spontaneously or (less commonly) after sensory stimuli. Seizures are self-limiting and remit within several months to years from onset, although generalized tonic-clonic seizures or other forms of epilepsy may be seen later in life. Developmental delay and cognitive and behavioral difficulties have been reported in a considerable percentage of patients."},"zh":{"name":"婴儿肌阵挛癫痫","synonyms":["婴儿良性肌阵挛型癫痫"]},"tr":{"name":"Süt çocuğu miyoklonik epilepsisi","synonyms":["Bebeklik döneminde selim miyoklonik epilepsi","Bebeklik döneminde selim miyoklonus epilepsisi"]}},"xrefs":[{"source":"OMIM","code":"605021","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617976","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618364","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A61.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1365780922"},{"source":"MONDO","code":"0019486","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"100566","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19486","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0751120","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":352582,"name":"Familial infantile myoclonic epilepsy","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":693802,"name":"Neonatal/infantile-onset epilepsy syndrome","classifications":[156,181]}],"children":[],"genes":[{"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":"20727515[PMID]","hgnc":"29203","ensembl":"ENSG00000162065","omim":"613577","loci":["16p13.3"]},{"symbol":"CPLX1","name":"complexin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28422131[PMID]","hgnc":"2309","ensembl":"ENSG00000168993","omim":"605032","loci":["4p16.3"]},{"symbol":"SCN8A","name":"sodium voltage-gated channel alpha subunit 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29726066[PMID]","hgnc":"10596","ensembl":"ENSG00000196876","omim":"600702","loci":["12q13.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":106.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2026-02-23","source":"20797691[PMID]_23517570[PMID]_25719194[PMID]_10741954[PMID]_24469935[PMID]_18639309[PMID]_25564312[PMID]_27039230[PMID]_24691296[PMID]_15508932[PMID]_18639309[PMID]_22342656[PMID]_25894286[PMID]_22819072[PMID]_23889608[PMID]","terms":[{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001326","label":"EEG with irregular generalized spike and wave complexes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025190","label":"Bilateral tonic-clonic seizure with generalized onset","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011197","label":"EEG with focal spike waves","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025373","label":"Interictal EEG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007057","label":"Poor hand-eye coordination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002275","label":"Poor motor coordination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011171","label":"Simple febrile seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006891","label":"Thick cerebral cortex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000643","label":"Blepharospasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010862","label":"Delayed fine motor development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002373","label":"Febrile seizure (within the age range of 3 months to 6 years)","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002121","label":"Generalized non-motor (absence) seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002463","label":"Language impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001112","label":"Leber optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007207","label":"Photosensitive tonic-clonic seizures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002301","label":"Hemiplegia","frequency":"Very rare (<4-1%)","criteria":null}]}}