{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,20]],"date-time":"2025-12-20T22:29:43Z","timestamp":1766269783845,"version":"build-2065373602"},"reference-count":30,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2020,9,1]],"date-time":"2020-09-01T00:00:00Z","timestamp":1598918400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,9,1]],"date-time":"2020-09-01T00:00:00Z","timestamp":1598918400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100004196","name":"Odense Universitetshospital","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Epilepsy Research"],"published-print":{"date-parts":[[2020,9]]},"DOI":"10.1016\/j.eplepsyres.2020.106374","type":"journal-article","created":{"date-parts":[[2020,6,1]],"date-time":"2020-06-01T20:19:53Z","timestamp":1591042793000},"page":"106374","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":10,"special_numbering":"C","title":["The clinical spectrum of familial and sporadic idiopathic generalized epilepsy"],"prefix":"10.1016","volume":"165","author":[{"given":"Joanna","family":"Gesche","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helle","family":"Hjalgrim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guido","family":"Rubboli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christoph P.","family":"Beier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.eplepsyres.2020.106374_bib0005","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1016\/j.yebeh.2018.10.007","article-title":"The cognitive phenotype of idiopathic generalized epilepsy","volume":"89","author":"Abarrategui","year":"2018","journal-title":"Epilepsy Behav."},{"key":"10.1016\/j.eplepsyres.2020.106374_bib0010","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1002\/ana.23702","article-title":"Glucose transporter 1 deficiency in the idiopathic generalized epilepsies","volume":"72","author":"Arsov","year":"2012","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.eplepsyres.2020.106374_bib0015","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/j.seizure.2016.01.015","article-title":"Misdiagnosis in JME: still a problem after 17 years?","volume":"36","author":"Atakli","year":"2016","journal-title":"Seizure"},{"key":"10.1016\/j.eplepsyres.2020.106374_bib0020","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1016\/j.seizure.2017.05.011","article-title":"Juvenile myoclonic epilepsy as a spectrum disorder: a focused review","volume":"49","author":"Baykan","year":"2017","journal-title":"Seizure"},{"key":"10.1016\/j.eplepsyres.2020.106374_bib0025","doi-asserted-by":"crossref","first-page":"1301","DOI":"10.1212\/WNL.0000000000001413","article-title":"Motor evoked potential polyphasia: a novel endophenotype of idiopathic generalized epilepsy","volume":"84","author":"Chowdhury","year":"2015","journal-title":"Neurology"},{"key":"10.1016\/j.eplepsyres.2020.106374_bib0030","doi-asserted-by":"crossref","first-page":"762","DOI":"10.1212\/01.wnl.0000174517.21383.36","article-title":"Lamotrigine associated with exacerbation or de novo myoclonus in idiopathic generalized epilepsies","volume":"65","author":"Crespel","year":"2005","journal-title":"Neurology"},{"key":"10.1016\/j.eplepsyres.2020.106374_bib0035","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1016\/j.ajhg.2019.05.020","article-title":"Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals","volume":"105","author":"Feng","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.eplepsyres.2020.106374_bib0040","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/S0387-7604(99)00113-8","article-title":"When antiepileptic drugs aggravate epilepsy","volume":"22","author":"Genton","year":"2000","journal-title":"Brain Dev."},{"key":"10.1016\/j.eplepsyres.2020.106374_bib0045","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/epi.13702","article-title":"Resistance to valproic acid as predictor of treatment resistance in genetic generalized epilepsies","volume":"58","author":"Gesche","year":"2017","journal-title":"Epilepsia"},{"key":"10.1016\/j.eplepsyres.2020.106374_bib0050","first-page":"1","article-title":"Epidemiology and outcome of idiopathic generalized epilepsy in adults","author":"Gesche","year":"2019","journal-title":"Eur. J. Neurol."},{"key":"10.1016\/j.eplepsyres.2020.106374_bib0055","unstructured":"Gesche, J., et al., n.d. Patterns and prognostic markers for treatment response in generalized epilepsies, Neurology. in press."},{"key":"10.1016\/j.eplepsyres.2020.106374_bib0060","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/j.eplepsyres.2017.01.011","article-title":"Prognostic factors in patients with refractory idiopathic generalized epilepsy","volume":"130","author":"Gomez-Iba\u00f1ez","year":"2017","journal-title":"Epilepsy Res."},{"key":"10.1016\/j.eplepsyres.2020.106374_bib0065","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1016\/j.ajhg.2012.06.016","article-title":"Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy","volume":"91","author":"Heinzen","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.eplepsyres.2020.106374_bib0070","first-page":"1","article-title":"Prognostic value of generalized polyspike trains and prolonged epileptiform EEG runs","author":"Jensen","year":"2019","journal-title":"J. Clin. Neurophysiol. 00"},{"key":"10.1016\/j.eplepsyres.2020.106374_bib0075","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1016\/j.yebeh.2019.05.021","article-title":"Treatment and challenges with antiepileptic drugs in patients with juvenile myoclonic epilepsy","volume":"98","author":"Johannessen Landmark","year":"2019","journal-title":"Epilepsy Behav."},{"key":"10.1016\/j.eplepsyres.2020.106374_bib0080","doi-asserted-by":"crossref","first-page":"S87","DOI":"10.1016\/j.yebeh.2012.11.051","article-title":"Consensus on diagnosis and management of JME: from founder\u2019s observations to current trends","volume":"28","author":"Kasteleijn- Nolst Trenit\u00e9","year":"2013","journal-title":"Epilepsy Behav."},{"issue":"June(6)","key":"10.1016\/j.eplepsyres.2020.106374_bib0085","doi-asserted-by":"crossref","first-page":"1069","DOI":"10.1111\/j.1528-1167.2009.02397.x","article-title":"Definition of drug resistant epilepsy: consensus proposal by the ad hoc Task Force of the ILAE Commission on Therapeutic Strategies","volume":"51","author":"Kwan","year":"2010","journal-title":"Epilepsia"},{"key":"10.1016\/j.eplepsyres.2020.106374_bib0090","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1097\/WCO.0000000000000657","article-title":"Spectrum of GABAA receptor variants in epilepsy","volume":"32","author":"Maljevic","year":"2019","journal-title":"Curr. Opin. Neurol."},{"key":"10.1016\/j.eplepsyres.2020.106374_bib0095","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1111\/j.0013-9580.2004.46803.x","article-title":"Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families","volume":"45","author":"Marini","year":"2004","journal-title":"Epilepsia"},{"key":"10.1016\/j.eplepsyres.2020.106374_bib0100","doi-asserted-by":"crossref","first-page":"1148","DOI":"10.1111\/epi.14042","article-title":"Genetic generalized epilepsies","volume":"59","author":"Mullen","year":"2018","journal-title":"Epilepsia"},{"key":"10.1016\/j.eplepsyres.2020.106374_bib0105","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1111\/j.1528-1167.2005.00313.x","article-title":"Idiopathic generalized epilepsies recognized by the international league against epilepsy","volume":"46","author":"Nordli","year":"2005","journal-title":"Epilepsia"},{"year":"2012","series-title":"Idiopathic Generalised Epilepsies","author":"Panayiotopoulos","key":"10.1016\/j.eplepsyres.2020.106374_bib0110"},{"key":"10.1016\/j.eplepsyres.2020.106374_bib0115","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1111\/epi.13709","article-title":"ILAE classification of the epilepsies position paper of the ILAE commission for classification and terminology","volume":"58","author":"Scheffer","year":"2017","journal-title":"Epilepsia"},{"key":"10.1016\/j.eplepsyres.2020.106374_bib0120","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1016\/j.yebeh.2012.11.042","article-title":"Neurophysiology of juvenile myoclonic epilepsy","volume":"28","author":"Serafini","year":"2013","journal-title":"Epilepsy Behav."},{"key":"10.1016\/j.eplepsyres.2020.106374_bib0125","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1016\/j.yebeh.2010.02.005","article-title":"Seizure control in patients with idiopathic generalized epilepsies \u2013 EEG determinants of medication response","volume":"17","author":"Szaflarski","year":"2010","journal-title":"Epilepsy Behav."},{"key":"10.1016\/j.eplepsyres.2020.106374_bib0130","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1684\/epd.2019.1024","article-title":"EEG of asymptomatic first-degree relatives of patients with juvenile myoclonic, childhood absence and rolandic epilepsy: a systematic review and meta-analysis","volume":"21","author":"Tashkandi","year":"2019","journal-title":"Epileptic Disord."},{"key":"10.1016\/j.eplepsyres.2020.106374_bib0135","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/j.seizure.2015.09.011","article-title":"Phenotyping juvenile myoclonic epilepsy. Praxis induction as a biomarker of unfavorable prognosis","volume":"32","author":"Uchida","year":"2015","journal-title":"Seizure"},{"key":"10.1016\/j.eplepsyres.2020.106374_bib0140","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/j.seizure.2018.09.006","article-title":"Prognosis of Juvenile myoclonic epilepsy with eye-closure sensitivity","volume":"62","author":"Uchida","year":"2018","journal-title":"Seizure"},{"key":"10.1016\/j.eplepsyres.2020.106374_bib0145","doi-asserted-by":"crossref","first-page":"2469","DOI":"10.1093\/brain\/awu175","article-title":"Motor co-activation in siblings of patients with juvenile myoclonic epilepsy: an imaging endophenotype?","volume":"137","author":"Wandschneider","year":"2014","journal-title":"Brain"},{"key":"10.1016\/j.eplepsyres.2020.106374_bib0150","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1016\/j.eplepsyres.2015.04.008","article-title":"Juvenile myoclonic epilepsy: a system disorder of the brain","volume":"114","author":"Wolf","year":"2015","journal-title":"Epilepsy Res."}],"container-title":["Epilepsy Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0920121120300048?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0920121120300048?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T13:43:24Z","timestamp":1760276604000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0920121120300048"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9]]},"references-count":30,"alternative-id":["S0920121120300048"],"URL":"https:\/\/doi.org\/10.1016\/j.eplepsyres.2020.106374","relation":{},"ISSN":["0920-1211"],"issn-type":[{"type":"print","value":"0920-1211"}],"subject":[],"published":{"date-parts":[[2020,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"The clinical spectrum of familial and sporadic idiopathic generalized epilepsy","name":"articletitle","label":"Article Title"},{"value":"Epilepsy Research","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.eplepsyres.2020.106374","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"106374"}}