{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T00:46:28Z","timestamp":1789865188543,"version":"4.0.1"},"reference-count":18,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2015,10,1]],"date-time":"2015-10-01T00:00:00Z","timestamp":1443657600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["epilepsybehavior.com","clinicalkey.jp","clinicalkey.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Epilepsy & Behavior"],"published-print":{"date-parts":[[2015,10]]},"DOI":"10.1016\/j.yebeh.2015.06.029","type":"journal-article","created":{"date-parts":[[2015,8,7]],"date-time":"2015-08-07T04:00:26Z","timestamp":1438920026000},"page":"53-56","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":37,"special_numbering":"C","title":["CHD2 mutations are a rare cause of generalized epilepsy with myoclonic\u2013atonic seizures"],"prefix":"10.1016","volume":"51","author":[{"given":"Marina","family":"Trivisano","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pasquale","family":"Striano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacopo","family":"Sartorelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucio","family":"Giordano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Traverso","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrizia","family":"Accorsi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simona","family":"Cappelletti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dianela Judith","family":"Claps","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico","family":"Vigevano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico","family":"Zara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Specchio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.yebeh.2015.06.029_bb0005","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/S0920-1211(99)00021-2","article-title":"Delineation of cryptogenic Lennox\u2013Gastaut syndrome and myoclonic astatic epilepsy using multiple correspondence analysis","volume":"36","author":"Kaminska","year":"1999","journal-title":"Epilepsy Res"},{"issue":"1\u20132","key":"10.1016\/j.yebeh.2015.06.029_bb0010","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/j.eplepsyres.2011.07.021","article-title":"Myoclonic astatic epilepsy: an age-dependent epileptic syndrome with favorable seizure outcome but variable cognitive evolution","volume":"97","author":"Trivisano","year":"2011","journal-title":"Epilepsy Res"},{"key":"10.1016\/j.yebeh.2015.06.029_bb0015","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1055\/s-0028-1091841","article-title":"Centrencephalic myoclonic\u2013astatic petit mal","volume":"2","author":"Doose","year":"1970","journal-title":"Neuropediatrics"},{"issue":"8","key":"10.1016\/j.yebeh.2015.06.029_bb0020","doi-asserted-by":"crossref","first-page":"1303","DOI":"10.1111\/j.1528-1167.2012.03581.x","article-title":"Dissecting the genetic basis of myoclonicastatic epilepsy","volume":"53","author":"Tang","year":"2012","journal-title":"Epilepsia"},{"key":"10.1016\/j.yebeh.2015.06.029_bb0025","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1038\/ng.2646","article-title":"Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1","volume":"45","author":"Carvill","year":"2013","journal-title":"Nat Genet"},{"issue":"9","key":"10.1016\/j.yebeh.2015.06.029_bb0030","doi-asserted-by":"crossref","first-page":"951","DOI":"10.1212\/WNL.0000000000001305","article-title":"CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures","volume":"84","author":"Thomas","year":"2015","journal-title":"Neurology"},{"key":"10.1016\/j.yebeh.2015.06.029_bb0035","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1139\/O07-063","article-title":"CHD proteins: a diverse family with strong ties","volume":"85","author":"Hall","year":"2007","journal-title":"Biochem Cell Biol"},{"key":"10.1016\/j.yebeh.2015.06.029_bb0040","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1016\/j.yebeh.2014.02.005","article-title":"CHD2 mutations in Lennox\u2013Gastaut syndrome","volume":"33","author":"Lund","year":"2014","journal-title":"Epilepsy Behav"},{"key":"10.1016\/j.yebeh.2015.06.029_bb0045","doi-asserted-by":"crossref","DOI":"10.1038\/nature12439","article-title":"De novo mutations in epileptic","author":"Epi4K Consortium; Epilepsy Phenome\/Genome Project","year":"2013","journal-title":"Nature"},{"key":"10.1016\/j.yebeh.2015.06.029_bb0050","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1016\/j.ajhg.2013.09.017","article-title":"De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome","volume":"93","author":"Suls","year":"2013","journal-title":"Am J Hum Genet"},{"issue":"7","key":"10.1016\/j.yebeh.2015.06.029_bb0055","doi-asserted-by":"crossref","first-page":"1810","DOI":"10.1111\/j.1528-1167.2009.02078.x","article-title":"Early onset myoclonic epilepsy and 15q26 microdeletion: observation of the first case","volume":"50","author":"Veredice","year":"2009","journal-title":"Epilepsia"},{"key":"10.1016\/j.yebeh.2015.06.029_bb0060","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1016\/j.pediatrneurol.2011.02.002","article-title":"Microdeletion of chromosome 15q26.1 in a child with intractable generalized epilepsy","volume":"45","author":"Dhamija","year":"2011","journal-title":"Pediatr Neurol"},{"issue":"2","key":"10.1016\/j.yebeh.2015.06.029_bb0065","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1016\/j.ejmg.2011.10.004","article-title":"Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency","volume":"55","author":"Capelli","year":"2012","journal-title":"Eur J Med Genet"},{"issue":"9854","key":"10.1016\/j.yebeh.2015.06.029_bb0070","doi-asserted-by":"crossref","first-page":"1674","DOI":"10.1016\/S0140-6736(12)61480-9","article-title":"Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study","volume":"380","author":"Rauch","year":"2012","journal-title":"Lancet"},{"issue":"9","key":"10.1016\/j.yebeh.2015.06.029_bb0075","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1016\/j.ejmg.2014.06.003","article-title":"15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity","volume":"57","author":"Courage","year":"2014","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.yebeh.2015.06.029_bb0080","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1186\/1866-1955-6-9","article-title":"CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems","volume":"6","author":"Ch\u00e9nier","year":"2014","journal-title":"J Neurodev Disord"},{"key":"10.1016\/j.yebeh.2015.06.029_bb0085","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1111\/j.1528-1167.2010.02522.x","article-title":"Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005\u20132009","volume":"51","author":"Berg","year":"2010","journal-title":"Epilepsia"},{"key":"10.1016\/j.yebeh.2015.06.029_bb0090","doi-asserted-by":"crossref","first-page":"1212","DOI":"10.1046\/j.1528-1157.2001.22001.x","article-title":"Glossary of descriptive terminology for ictal semiology: report of the ILAE Task Force on Classification and Terminology","volume":"42","author":"Blume","year":"2001","journal-title":"Epilepsia"}],"container-title":["Epilepsy & Behavior"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1525505015003601?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1525505015003601?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,8,29]],"date-time":"2019-08-29T00:14:47Z","timestamp":1567037687000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1525505015003601"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,10]]},"references-count":18,"alternative-id":["S1525505015003601"],"URL":"https:\/\/doi.org\/10.1016\/j.yebeh.2015.06.029","relation":{},"ISSN":["1525-5050"],"issn-type":[{"value":"1525-5050","type":"print"}],"subject":[],"published":{"date-parts":[[2015,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"CHD2 mutations are a rare cause of generalized epilepsy with myoclonic\u2013atonic seizures","name":"articletitle","label":"Article Title"},{"value":"Epilepsy & Behavior","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.yebeh.2015.06.029","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}