{"orpha":33069,"name":"Dravet syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SMEI","Severe myoclonic epilepsy of infancy","Severe myoclonus epilepsy of infancy"],"definition":"A rare, genetic, developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures that are often febrile, and associated with cognitive and motor impairment.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-33069/","orphanet_url":"https://www.orpha.net/en/disease/detail/33069","names":{"fr":{"name":"Syndrome de Dravet","synonyms":["EMSN","Epilepsie myoclonique sévère du nourrisson"],"definition":"Encéphalopathie épileptique et développementale génétique rare caractérisée par des crises réfractaires à début infantile, généralement fébriles, associées à des troubles moteurs et cognitifs."},"de":{"name":"Dravet-Syndrom","synonyms":["DS","Myoklonusepilepsie, frühkindliche schwere","SMEI","Schwere infantile Myoklonusepilepsie","Schwere myoklonische Epilepsie des Kleinkindalters"],"definition":"Eine seltene, genetisch bedingte epileptische Enzephalopathie, die gekennzeichnet ist durch therapierefraktäre Krampfanfälle bei Kleinkindern. Die oft fiebrigen Anfälle setzen im Säuglingsalter ein und gehen mit kognitiven und motorischen Beeinträchtigungen einher."},"es":{"name":"Síndrome de Dravet","synonyms":["Epilepsia grave de la infancia con mioclono","Epilepsia mioclónica grave de la infancia"],"definition":"Es una encefalopatía epiléptica del desarrollo, poco frecuente y de origen genético, caracterizada por la aparición, de inicio en el periodo de lactancia, de convulsiones intratables que suelen ser febriles, y que se asocia a deterioro cognitivo y motor."},"it":{"name":"Sindrome di Dravet","synonyms":["Epilessia mioclonica grave dell'infanzia","SMEI"],"definition":"Si tratta di un'encefalopatia rara, epilettica e dello sviluppo, di origine genetica, che esordisce nella prima infanzia con crisi non trattabili, spesso febbrili, associate a deficit cognitivo e motorio."},"nl":{"name":"Syndroom van Dravet","synonyms":["Ernstige myoclonische epilepsie in de zuigelingentijd","Ernstige myoclonusepilepsie in de zuigelingentijd","SMEI"],"definition":"Een zeldzame, genetische ontwikkelings- en epileptische encefalopathie, gekenmerkt door infantiele aanvang van onbehandelbare insulten die vaak febriel zijn, en geassocieerd met cognitieve en motorische stoornissen."},"pt":{"name":"Síndrome Dravet","synonyms":["Epilepsia mioclónica grave do lactente","SMEI"]},"pl":{"name":"Zespół Dravet","synonyms":["Ciężka miokloniczna padaczka niemowląt"]},"cs":{"name":"Syndrom Dravetové","synonyms":["DS","SMEI","Težká epilepsie s myoklonem v casném detství","Těžká myoklonická epilepsie v časném dětství","Těžká epilepsie s myoklonem v časném dětství"]},"uk":{"name":"Синдром Драве","synonyms":["Важка міоклонічна епілепсія дитячого віку","Важка міоклонічна епілепсія дитячого віку","SMEI"],"definition":"A rare, genetic, developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures that are often febrile, and associated with cognitive and motor impairment."},"zh":{"name":"Dravet综合征","synonyms":["婴儿严重肌阵挛型癫痫"]},"tr":{"name":"Dravet sendromu","synonyms":["DS","KOBİ","Bebeklik döneminde ağır miyoklonik epilepsi","Bebeklik döneminde ağır miyoklonus epilepsi"]}},"xrefs":[{"source":"OMIM","code":"607208","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"612164","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615744","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A61.11","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1255654700"},{"source":"MONDO","code":"0011794","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0751122","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10430","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10073677","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":98749,"name":"Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect","classifications":[156]},{"orpha":98744,"name":"Neurological channelopathy of the central nervous system due to a genetic sodium channel defect","classifications":[156]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SCN9A","name":"sodium voltage-gated channel alpha subunit 9","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"19763161[PMID]_23895530[PMID]_21463275[PMID]_18755274[PMID]","hgnc":"10597","ensembl":"ENSG00000169432","omim":"603415","loci":["2q24.3"]},{"symbol":"SCN1B","name":"sodium voltage-gated channel beta subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"19710327[PMID]_23148524[PMID]_23093055[PMID]_21463275[PMID]_22787626[PMID]","hgnc":"10586","ensembl":"ENSG00000105711","omim":"600235","loci":["19q13.11"]},{"symbol":"GABRA1","name":"gamma-aminobutyric acid type A receptor subunit alpha1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24623842[PMID]","hgnc":"4075","ensembl":"ENSG00000022355","omim":"137160","loci":["5q34"]},{"symbol":"GABRG2","name":"gamma-aminobutyric acid type A receptor subunit gamma2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11748509[PMID]_23093055[PMID]_21463275[PMID]_22787626[PMID]","hgnc":"4087","ensembl":"ENSG00000113327","omim":"137164","loci":["5q34"]},{"symbol":"PCDH19","name":"protocadherin 19","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19214208[PMID]_22848613[PMID]_23808377[PMID]_23093055[PMID]_21463275[PMID]","hgnc":"14270","ensembl":"ENSG00000165194","omim":"300460","loci":["Xq22.1"]},{"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":"20301494[PMID]_23093055[PMID]_21463275[PMID]_22787626[PMID]_11359211[PMID]_12754708[PMID]_16458823[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":"19783390[PMID]","hgnc":"10588","ensembl":"ENSG00000136531","omim":"182390","loci":["2q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.3,"area":"Europe","status":"Validated","source":"22719002[PMID]_25772213[PMID]_ 31302675[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-01-31","source":"20301494[PMID]_27264139[PMID]","terms":[{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007240","label":"Progressive gait ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007270","label":"Atypical absence seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002396","label":"Cogwheel rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011172","label":"Complex febrile seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012847","label":"Epilepsia partialis continua","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011468","label":"Facial tics","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002373","label":"Febrile seizure (within the age range of 3 months to 6 years)","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002349","label":"Focal aware seizure","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:0011169","label":"Generalized clonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011182","label":"Interictal epileptiform activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000466","label":"Limited neck range of motion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010841","label":"Multifocal epileptiform discharges","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008770","label":"Obsessive-compulsive trait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001327","label":"Photomyoclonic seizures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007207","label":"Photosensitive tonic-clonic seizures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002345","label":"Action tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200048","label":"Cyanotic episode","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002307","label":"Drooling","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025101","label":"Dysgenesis of the hippocampus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011185","label":"EEG with focal epileptiform discharges","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011198","label":"EEG with generalized epileptiform discharges","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002283","label":"Global brain atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100710","label":"Impulsivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002311","label":"Incoordination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003066","label":"Limited knee extension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008081","label":"Pes valgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007010","label":"Poor fine motor coordination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031475","label":"Status epilepticus without prominent motor symptoms","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100694","label":"Tibial torsion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010818","label":"Generalized tonic seizure","frequency":"Very rare (<4-1%)","criteria":null}]}}