{"orpha":36387,"name":"Genetic epilepsy with febrile seizure plus","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["GEFS+","Generalized epilepsy with febrile seizures plus"],"definition":"A rare familial epilepsy syndrome characterized by febrile, focal and generalized seizures, with a spectrum of phenotypes largely variable among different family members.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-36387/","orphanet_url":"https://www.orpha.net/en/disease/detail/36387","names":{"fr":{"name":"Epilepsie génétique avec crises fébriles plus","synonyms":["GEFS+","Epilepsie généralisée avec convulsions fébriles plus"],"definition":"Syndrome épileptique familial rare caractérisé par des crises fébriles, focales et généralisées, dont le spectre phénotypique varie considérablement suivant les différents membres de la famille."},"de":{"name":"Generalisierte Epilepsie mit Fieberkrämpfen plus","synonyms":["GEFS+"],"definition":"Ein seltenes familiäres Epilepsiesyndrom, das durch fieberhafte, fokale und generalisierte Anfälle gekennzeichnet ist und bei dem das Spektrum der Phänotypen bei den verschiedenen Familienmitgliedern sehr unterschiedlich ist."},"es":{"name":"Epilepsia genética con crisis febriles plus","synonyms":["EGCF+","Epilepsia generalizada con crisis febriles plus","GEFS+"],"definition":"Es un síndrome poco frecuente de epilepsia familiar caracterizado por crisis febriles, focales y generalizadas, con una gran variabilidad fenotípica intrafamiliar."},"it":{"name":"Epilessia genetica con convulsioni febbrili plus","synonyms":["GEFS+","Epilessia generalizzata con convulsioni febbrili plus"]},"nl":{"name":"Genetische epilepsie met koortsstuipen plus","synonyms":["GEFS+","Gegeneraliseerde epilepsie met koortsstuipen plus"],"definition":"Een zeldzaam familiaal epilepsiesyndroom, gekenmerkt door febriele, focale en gegeneraliseerde insulten, met een spectrum van fenotypes die sterk variëren tussen verschillende familieleden."},"pt":{"name":"Epilepsia generalizada com convulsões febris-plus","synonyms":["GEFS+"]},"pl":{"name":"Padaczka uogólniona z drgawkami gorączkowymi plus","synonyms":["GEFS+","Genetycznie uwarunkowana padaczka z drgawkami gorączkowymi plus"]},"cs":{"name":"GEFS+","synonyms":["Generalizovaná epilepsie s febrilními křečemi plus"]},"uk":{"name":"Генералізована епілепсія з фебрильними судомами плюс","synonyms":["GEFS+","Генетична епілепсія з фебрильними нападами-плюс"],"definition":"Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms)."},"zh":{"name":"全面性癫痫伴热性惊厥附加症","synonyms":["遗传性癫痫伴热性惊厥附加症"]},"tr":{"name":"Ateşli nöbetler ile seyreden jeneralize epilepsi-artı","synonyms":["GEFS +","Ateşli nöbetler ile seyreden genetik epilepsi-artı"]}},"xrefs":[{"source":"OMIM","code":"604233","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"604352","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"604403","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"607681","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609800","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612279","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613060","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613828","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613863","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614418","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616172","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618482","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620755","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A61.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"484386460"},{"source":"MONDO","code":"0018214","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565808","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3502809","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":165805,"name":"Familial mesial temporal lobe epilepsy with febrile seizures","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98259,"name":"Childhood-onset epilepsy syndrome","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]}],"children":[],"genes":[{"symbol":"ADGRV1","name":"adhesion G protein-coupled receptor V1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"12402266[PMID]","hgnc":"17416","ensembl":"ENSG00000164199","omim":"602851","loci":["5q14.3"]},{"symbol":"GABRD","name":"gamma-aminobutyric acid type A receptor subunit delta","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"4084","ensembl":"ENSG00000187730","omim":"137163","loci":["1p36.33"]},{"symbol":"SCN2A","name":"sodium voltage-gated channel alpha subunit 2","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"10588","ensembl":"ENSG00000136531","omim":"182390","loci":["2q24.3"]},{"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":null,"hgnc":"10597","ensembl":"ENSG00000169432","omim":"603415","loci":["2q24.3"]},{"symbol":"CPA6","name":"carboxypeptidase A6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21922598[PMID]","hgnc":"17245","ensembl":"ENSG00000165078","omim":"609562","loci":["8q13.2"]},{"symbol":"FGF13","name":"fibroblast growth factor 13","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33245860[PMID]_26063919[PMID]","hgnc":"3670","ensembl":"ENSG00000129682","omim":"300070","loci":["Xq26.3-q27.1"]},{"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":null,"hgnc":"4087","ensembl":"ENSG00000113327","omim":"137164","loci":["5q34"]},{"symbol":"HCN1","name":"hyperpolarization activated cyclic nucleotide gated potassium channel 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30351409[PMID]","hgnc":"4845","ensembl":"ENSG00000164588","omim":"602780","loci":["5p12"]},{"symbol":"PRRT2","name":"proline rich transmembrane protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25522171[PMID]","hgnc":"30500","ensembl":"ENSG00000167371","omim":"614386","loci":["16p11.2"]},{"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]","hgnc":"10585","ensembl":"ENSG00000144285","omim":"182389","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) in","status":"Assessed","source":null,"hgnc":"10586","ensembl":"ENSG00000105711","omim":"600235","loci":["19q13.11"]},{"symbol":"SLC32A1","name":"solute carrier family 32 member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34038384[PMID]","hgnc":"11018","ensembl":"ENSG00000101438","omim":"616440","loci":["20q11.23"]},{"symbol":"STX1B","name":"syntaxin 1B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25362483[PMID]","hgnc":"18539","ensembl":"ENSG00000099365","omim":"601485","loci":["16p11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-07-31","source":"25917466[PMID]_26339958[PMID]_20301494[PMID]","terms":[{"hpo":"HP:0002197","label":"Generalized-onset seizure","frequency":"Very frequent (99-80%)","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:0002121","label":"Generalized non-motor (absence) seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010819","label":"Atonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002539","label":"Cortical dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010850","label":"EEG with spike-wave complexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007058","label":"Generalized cerebral atrophy/hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002311","label":"Incoordination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011151","label":"Obtundation status","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007010","label":"Poor fine motor coordination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002384","label":"Focal impaired awareness seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003066","label":"Limited knee extension","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008770","label":"Obsessive-compulsive trait","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002133","label":"Status epilepticus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004684","label":"Talipes valgus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100694","label":"Tibial torsion","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Very rare (<4-1%)","criteria":null}]}}