{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T14:52:56Z","timestamp":1791903176009,"version":"4.3.4"},"reference-count":42,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2016,3,1]],"date-time":"2016-03-01T00:00:00Z","timestamp":1456790400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2016,3,1]],"date-time":"2016-03-01T00:00:00Z","timestamp":1456790400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2017,2,1]],"date-time":"2017-02-01T00:00:00Z","timestamp":1485907200000},"content-version":"am","delay-in-days":337,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100001700","name":"Ministry of Education, Culture, Sports, Science and Technology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001700","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002241","name":"Japan Science and Technology Agency","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002241","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007449","name":"Takeda Science Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007449","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["brainanddevelopment.com","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Brain and Development"],"published-print":{"date-parts":[[2016,3]]},"DOI":"10.1016\/j.braindev.2015.09.011","type":"journal-article","created":{"date-parts":[[2015,10,26]],"date-time":"2015-10-26T00:57:34Z","timestamp":1445821054000},"page":"285-292","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":70,"title":["High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders"],"prefix":"10.1016","volume":"38","author":[{"given":"Yu","family":"Kobayashi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Tohyama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitsuhiro","family":"Kato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noriyuki","family":"Akasaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinichi","family":"Magara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideshi","family":"Kawashima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsukasa","family":"Ohashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideaki","family":"Shiraishi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitsuko","family":"Nakashima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirotomo","family":"Saitsu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.braindev.2015.09.011_b0005","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.braindev.2015.09.011_b0010","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1017\/S0317167100012889","article-title":"Genetic testing of epileptic encephalopathies of infancy: an approach","volume":"40","author":"Sharma","year":"2013","journal-title":"Can J Neurol Sci"},{"key":"10.1016\/j.braindev.2015.09.011_b0015","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1016\/S0387-7604(02)00079-7","article-title":"Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX","volume":"24","author":"Str\u00f8mme","year":"2002","journal-title":"Brain Dev"},{"key":"10.1016\/j.braindev.2015.09.011_b0020","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1212\/01.WNL.0000068012.69928.92","article-title":"Polyalanine expansion of ARX associated with cryptogenic West syndrome","volume":"61","author":"Kato","year":"2003","journal-title":"Neurology"},{"key":"10.1016\/j.braindev.2015.09.011_b0025","doi-asserted-by":"crossref","first-page":"1401","DOI":"10.1086\/375538","article-title":"Disruption of the serine\/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation","volume":"72","author":"Kalscheuer","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.braindev.2015.09.011_b0030","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1086\/518903","article-title":"A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)","volume":"81","author":"Kato","year":"2007","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.braindev.2015.09.011_b0035","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1038\/ng.150","article-title":"De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy","volume":"40","author":"Saitsu","year":"2008","journal-title":"Nat Genet"},{"key":"10.1016\/j.braindev.2015.09.011_b0040","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1016\/j.pediatrneurol.2011.11.003","article-title":"Genes of early-onset epileptic encephalopathies: from genotype to phenotype","volume":"46","author":"Mastrangelo","year":"2012","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.braindev.2015.09.011_b0045","doi-asserted-by":"crossref","first-page":"934","DOI":"10.1016\/j.jocn.2012.01.017","article-title":"A genetic diagnostic approach to infantile epileptic encephalopathies","volume":"19","author":"Kamien","year":"2012","journal-title":"J Clin Neurosci"},{"key":"10.1016\/j.braindev.2015.09.011_b0050","doi-asserted-by":"crossref","first-page":"1387","DOI":"10.1111\/j.1528-1167.2012.03516.x","article-title":"Targeted next generation sequencing as a diagnostic tool in epileptic disorders","volume":"53","author":"Lemke","year":"2012","journal-title":"Epilepsia"},{"key":"10.1016\/j.braindev.2015.09.011_b0055","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1212\/01.wnl.0000266594.16202.c1","article-title":"Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus","volume":"69","author":"Guerrini","year":"2007","journal-title":"Neurology"},{"key":"10.1016\/j.braindev.2015.09.011_b0060","doi-asserted-by":"crossref","first-page":"2265","DOI":"10.1002\/mds.23164","article-title":"Choreo-ballistic movements in a case carrying a missense mutation in syntaxin binding protein 1 gene","volume":"25","author":"Kanazawa","year":"2010","journal-title":"Mov Disord"},{"key":"10.1016\/j.braindev.2015.09.011_b0065","doi-asserted-by":"crossref","first-page":"1159","DOI":"10.1212\/WNL.0b013e3181f4d7bf","article-title":"Clinical spectrum of early-onset epileptic encephalopaties associated with STXBP1 mutations","volume":"75","author":"Deprez","year":"2010","journal-title":"Neurology"},{"key":"10.1016\/j.braindev.2015.09.011_b0070","doi-asserted-by":"crossref","first-page":"1820","DOI":"10.1111\/j.1528-1167.2011.03163.x","article-title":"STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients","volume":"52","author":"Mignot","year":"2011","journal-title":"Epilepsia"},{"key":"10.1016\/j.braindev.2015.09.011_b0075","doi-asserted-by":"crossref","first-page":"2067","DOI":"10.1111\/j.1528-1167.2012.03656.x","article-title":"Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies","volume":"53","author":"Guerrini","year":"2012","journal-title":"Epilepsia"},{"key":"10.1016\/j.braindev.2015.09.011_b0080","doi-asserted-by":"crossref","first-page":"1058","DOI":"10.1111\/j.1528-1167.2011.03101.x","article-title":"New concept in classification of the epilepsies: entering the 21st century","volume":"52","author":"Berg","year":"2011","journal-title":"Epilepsia"},{"key":"10.1016\/j.braindev.2015.09.011_b0085","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1038\/ng.2562","article-title":"De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood","volume":"45","author":"Saitsu","year":"2013","journal-title":"Nat Genet"},{"key":"10.1016\/j.braindev.2015.09.011_b0090","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1038\/jhg.2014.71","article-title":"A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation","volume":"59","author":"Saitsu","year":"2014","journal-title":"J Hum Genet"},{"key":"10.1016\/j.braindev.2015.09.011_b0095","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1684\/epd.2014.0649","article-title":"Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutation","volume":"16","author":"Ohashi","year":"2014","journal-title":"Epileptic Disord"},{"key":"10.1016\/j.braindev.2015.09.011_b0100","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1111\/epi.12987","article-title":"GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders","volume":"56","author":"Ohba","year":"2015","journal-title":"Epilepsia"},{"key":"10.1016\/j.braindev.2015.09.011_b0105","doi-asserted-by":"crossref","first-page":"2397","DOI":"10.1111\/j.1528-1167.2010.02728.x","article-title":"STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern","volume":"51","author":"Saitsu","year":"2010","journal-title":"Epilepsia"},{"key":"10.1016\/j.braindev.2015.09.011_b0110","doi-asserted-by":"crossref","first-page":"992","DOI":"10.1212\/WNL.0b013e3182a43e57","article-title":"Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome","volume":"81","author":"Nakamura","year":"2013","journal-title":"Neurology"},{"key":"10.1016\/j.braindev.2015.09.011_b0115","doi-asserted-by":"crossref","first-page":"1835","DOI":"10.1111\/j.1528-1167.2011.03174.x","article-title":"CDKL5 alterations lead to early epileptic encephalopathy in both genders","volume":"52","author":"Liang","year":"2011","journal-title":"Epilepsia"},{"key":"10.1016\/j.braindev.2015.09.011_b0120","doi-asserted-by":"crossref","first-page":"1262","DOI":"10.1111\/epi.12203","article-title":"Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy","volume":"54","author":"Kodera","year":"2013","journal-title":"Epilepsia"},{"key":"10.1016\/j.braindev.2015.09.011_b0125","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1038\/nature12439","article-title":"De novo mutations in epileptic encephalopathies","volume":"501","author":"Allen","year":"2013","journal-title":"Nature"},{"key":"10.1016\/j.braindev.2015.09.011_b0130","doi-asserted-by":"crossref","first-page":"1270","DOI":"10.1111\/epi.12201","article-title":"Exome sequencing reveals new causal mutations in children with epileptic encephalopathies","volume":"54","author":"Veeramah","year":"2013","journal-title":"Epilepsia"},{"key":"10.1016\/j.braindev.2015.09.011_b0135","doi-asserted-by":"crossref","first-page":"4846","DOI":"10.1093\/hmg\/ddu199","article-title":"The genetic landscape of infantile spasms","volume":"23","author":"Michaud","year":"2014","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.braindev.2015.09.011_b0140","doi-asserted-by":"crossref","first-page":"3200","DOI":"10.1093\/hmg\/ddu030","article-title":"Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis","volume":"23","author":"Martin","year":"2014","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.braindev.2015.09.011_b0145","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1111\/j.1469-8749.2008.03178.x","article-title":"Motor stereotypies in children with autism and other developmental disorders","volume":"51","author":"Goldman","year":"2008","journal-title":"Dev Med Child Neurol"},{"key":"10.1016\/j.braindev.2015.09.011_b0150","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1136\/jmg.2010.087528","article-title":"The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis","volume":"48","author":"Kort\u00fcm","year":"2011","journal-title":"J Med Genet"},{"key":"10.1016\/j.braindev.2015.09.011_b0155","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1684\/epd.2014.0628","article-title":"Dyskinesia as a new adverse effect of hormonal treatment in West syndrome","volume":"16","author":"Sukhudyan","year":"2014","journal-title":"Epileptic Disord"},{"key":"10.1016\/j.braindev.2015.09.011_b0160","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1016\/j.ajhg.2013.07.014","article-title":"De Novo mutations in GNAO1, encoding a G\u03b1o subunit of heterotrimeric G proteins, cause epileptic encephalopathy","volume":"93","author":"Nakamura","year":"2013","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.braindev.2015.09.011_b0165","doi-asserted-by":"crossref","first-page":"4151","DOI":"10.1093\/hmg\/dds123","article-title":"Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing","volume":"21","author":"Timal","year":"2012","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.braindev.2015.09.011_b0170","doi-asserted-by":"crossref","first-page":"1921","DOI":"10.1056\/NEJMoa1206524","article-title":"Diagnostic exome sequencing in persons with severe intellectual disability","volume":"367","author":"de Ligt","year":"2012","journal-title":"N Engl J Med"},{"key":"10.1016\/j.braindev.2015.09.011_b0175","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1016\/S0140-6736(02)09968-3","article-title":"Sodium-channel defects in benign familial neonatal-infantile seizures","volume":"360","author":"Heron","year":"2002","journal-title":"Lancet"},{"key":"10.1016\/j.braindev.2015.09.011_b0180","doi-asserted-by":"crossref","first-page":"1046","DOI":"10.1212\/WNL.0b013e3181b9cebc","article-title":"De novo mutations of voltage-gated sodium channel \u03b1II gene SCN2A in intractable epilepsies","volume":"73","author":"Ogiwara","year":"2009","journal-title":"Neurology"},{"key":"10.1016\/j.braindev.2015.09.011_b0185","doi-asserted-by":"crossref","first-page":"946","DOI":"10.1111\/epi.12168","article-title":"SCN1A testing for epilepsy: application in clinical practice","volume":"54","author":"Hirose","year":"2013","journal-title":"Epilepsia"},{"key":"10.1016\/j.braindev.2015.09.011_b0190","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1038\/nature10989","article-title":"Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations","volume":"485","author":"O\u2019Roak","year":"2012","journal-title":"Nature"},{"key":"10.1016\/j.braindev.2015.09.011_b0195","doi-asserted-by":"crossref","first-page":"1619","DOI":"10.1126\/science.1227764","article-title":"Multiple targeted sequencing identifies recurrently mutated genes in autism spectrum disorders","volume":"338","author":"O\u2019Roak","year":"2012","journal-title":"Science"},{"key":"10.1016\/j.braindev.2015.09.011_b0200","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1016\/j.ajhg.2011.02.001","article-title":"Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability","volume":"88","author":"Hamdan","year":"2011","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.braindev.2015.09.011_b0205","doi-asserted-by":"crossref","first-page":"618","DOI":"10.1016\/j.ajhg.2014.03.006","article-title":"De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability","volume":"94","author":"Grozeva","year":"2014","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.braindev.2015.09.011_b0210","doi-asserted-by":"crossref","first-page":"1035","DOI":"10.1002\/humu.22332","article-title":"Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics","volume":"34","author":"Sikkema-Raddatz","year":"2013","journal-title":"Hum Mutat"}],"container-title":["Brain and Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760415002107?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760415002107?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T19:47:45Z","timestamp":1759952865000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0387760415002107"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,3]]},"references-count":42,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2016,3]]}},"alternative-id":["S0387760415002107"],"URL":"https:\/\/doi.org\/10.1016\/j.braindev.2015.09.011","relation":{},"ISSN":["0387-7604"],"issn-type":[{"value":"0387-7604","type":"print"}],"subject":[],"published":{"date-parts":[[2016,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders","name":"articletitle","label":"Article Title"},{"value":"Brain and Development","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.braindev.2015.09.011","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}