{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T12:03:44Z","timestamp":1791115424686,"version":"4.1.0"},"reference-count":20,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2009,9,9]],"date-time":"2009-09-09T00:00:00Z","timestamp":1252454400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2010,2]]},"DOI":"10.1038\/ejhg.2009.139","type":"journal-article","created":{"date-parts":[[2009,9,9]],"date-time":"2009-09-09T10:19:29Z","timestamp":1252491569000},"page":"157-162","source":"Crossref","is-referenced-by-count":31,"title":["Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G\/p.Y27X)"],"prefix":"10.1038","volume":"18","author":[{"given":"Tod","family":"Fullston","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louise","family":"Brueton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tracey","family":"Willis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sunny","family":"Philip","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lesley","family":"MacPherson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Merran","family":"Finnis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jozef","family":"Gecz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenny","family":"Morton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2009,9,9]]},"reference":[{"key":"BFejhg2009139_CR1","doi-asserted-by":"publisher","first-page":"441","DOI":"10.1038\/ng862","volume":"30","author":"P Str\u00f8mme","year":"2002","unstructured":"Str\u00f8mme P, Mangelsdorf ME, Shaw MA et al: Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet 2002; 30: 441\u2013445.","journal-title":"Nat Genet"},{"key":"BFejhg2009139_CR2","doi-asserted-by":"publisher","first-page":"981","DOI":"10.1093\/hmg\/11.8.981","volume":"11","author":"T Bienvenu","year":"2002","unstructured":"Bienvenu T, Poirier K, Friocourt G et al: ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum Mol Genet 2002; 11: 981\u2013991.","journal-title":"Hum Mol Genet"},{"key":"BFejhg2009139_CR3","doi-asserted-by":"publisher","first-page":"359","DOI":"10.1038\/ng1009","volume":"32","author":"K Kitamura","year":"2002","unstructured":"Kitamura K, Yanazawa M, Sugiyama N et al: Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. Nat Genet 2002; 32: 359\u2013369.","journal-title":"Nat Genet"},{"key":"BFejhg2009139_CR4","doi-asserted-by":"publisher","first-page":"308","DOI":"10.1016\/j.gde.2006.04.003","volume":"16","author":"J Gecz","year":"2006","unstructured":"Gecz J, Cloosterman D, Partington M : ARX: a gene for all seasons. Curr Opin Genet Dev 2006; 16: 308\u2013316.","journal-title":"Curr Opin Genet Dev"},{"key":"BFejhg2009139_CR5","doi-asserted-by":"publisher","first-page":"631","DOI":"10.1002\/dvdy.20164","volume":"231","author":"E Colombo","year":"2004","unstructured":"Colombo E, Galli R, Cossu G, Gecz J, Broccoli V : Mouse orthologue of ARX, a gene mutated in several X-linked forms of mental retardation and epilepsy, is a marker of adult neural stem cells and forebrain GABAergic neurons. Dev Dyn 2004; 231: 631\u2013639.","journal-title":"Dev Dyn"},{"key":"BFejhg2009139_CR6","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1016\/j.molbrainres.2003.11.021","volume":"122","author":"K Poirier","year":"2004","unstructured":"Poirier K, Van Esch H, Friocourt G et al: Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons. Brain Res Mol Brain Res 2004; 122: 35\u201346.","journal-title":"Brain Res Mol Brain Res"},{"key":"BFejhg2009139_CR7","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1016\/j.ygeno.2007.03.005","volume":"90","author":"C Shoubridge","year":"2007","unstructured":"Shoubridge C, Cloosterman D, Parkinson-Lawerence E, Brooks D, G\u00e9cz J : Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene. Genomics 2007; 90: 59\u201371.","journal-title":"Genomics"},{"key":"BFejhg2009139_CR8","doi-asserted-by":"publisher","first-page":"236","DOI":"10.1016\/j.neuroscience.2007.01.038","volume":"146","author":"O McKenzie","year":"2007","unstructured":"McKenzie O, Ponte I, Mangelsdorf M et al: Aristaless-related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho\/transducin-like enhancer of split dependent transcriptional repressor. Neuroscience 2007; 146: 236\u2013247.","journal-title":"Neuroscience"},{"key":"BFejhg2009139_CR9","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1002\/humu.10310","volume":"23","author":"M Kato","year":"2004","unstructured":"Kato M, Das S, Petras K et al: Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Hum Mutat 2004; 23: 147\u2013159.","journal-title":"Hum Mutat"},{"key":"BFejhg2009139_CR10","doi-asserted-by":"publisher","first-page":"70","DOI":"10.1002\/ajmg.a.30892","volume":"138","author":"SS Bhat","year":"2005","unstructured":"Bhat SS, Rogers RC, Holden KR, Srivastava AK : A novel in-frame deletion in ARX is associated with lissencephaly with absent corpus callosum and hypoplastic genitalia. Am J Med Genet A 2005; 138: 70\u201372.","journal-title":"Am J Med Genet A"},{"key":"BFejhg2009139_CR11","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/S0378-1119(02)01056-9","volume":"299","author":"M Kozak","year":"2002","unstructured":"Kozak M : Pushing the limits of the scanning mechanism for initiation of translation. Gene 2002; 299: 1\u201334.","journal-title":"Gene"},{"key":"BFejhg2009139_CR12","doi-asserted-by":"publisher","first-page":"214","DOI":"10.1086\/505407","volume":"79","author":"M Paulsen","year":"2006","unstructured":"Paulsen M, Lund C, Akram Z, Winther JR, Horn N, Moller LB : Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sites. Am J Hum Genet 2006; 79: 214\u2013229.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2009139_CR13","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1038\/nrm1310","volume":"5","author":"LE Maquat","year":"2004","unstructured":"Maquat LE : Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics. Nature Rev Mol Cell Biol 2004; 5: 89\u201399.","journal-title":"Nature Rev Mol Cell Biol"},{"key":"BFejhg2009139_CR14","doi-asserted-by":"publisher","first-page":"563","DOI":"10.1261\/rna.815108","volume":"14","author":"AL Silva","year":"2008","unstructured":"Silva AL, Ribeiro P, In\u00e1cio A, Liebhaber SA, Rom\u00e3o L : Proximity of the poly(A)-binding protein to a premature termination codon inhibits mammalian nonsense-mediated mRNA decay. RNA 2008; 14: 563\u2013576.","journal-title":"RNA"},{"key":"BFejhg2009139_CR15","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1016\/j.tins.2008.02.003","volume":"31","author":"JS Mattick","year":"2008","unstructured":"Mattick JS, Mehler MF : RNA editing, DNA recoding and the evolution of human cognition. Trends Neurosci 2008; 31: 227\u2013233.","journal-title":"Trends Neurosci"},{"issue":"Suppl 1","key":"BFejhg2009139_CR16","doi-asserted-by":"publisher","first-page":"S58","DOI":"10.1016\/j.eplepsyres.2005.11.021","volume":"70","author":"S Ohtahara","year":"2006","unstructured":"Ohtahara S, Yamatogi Y : Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic enecephalopathy. Epilepsy Res 2006; 70 (Suppl 1): S58\u2013S67.","journal-title":"Epilepsy Res"},{"key":"BFejhg2009139_CR17","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1016\/S0387-7604(01)00392-8","volume":"24","author":"Y Yamatogi","year":"2002","unstructured":"Yamatogi Y, Ohtahara S : Early-infantile epileptic encephalopathy with suppression-bursts. Ohtahara syndrome: its overview referring to our 16 cases. Brain Dev 2002; 24: 13\u201323.","journal-title":"Brain Dev"},{"issue":"Suppl 1","key":"BFejhg2009139_CR18","doi-asserted-by":"publisher","first-page":"S68","DOI":"10.1016\/j.eplepsyres.2005.11.022","volume":"70","author":"A Djukic","year":"2006","unstructured":"Djukic A, Lado FA, Shinnar S, Moshe SL : Are early myoclonic encephalopathy (EME) and the Ohtahara syndrome (EIEE) independent of each other? Epilepsy Res 2006; 70 (Suppl 1): S68\u2013S76.","journal-title":"Epilepsy Res"},{"key":"BFejhg2009139_CR19","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1086\/518903","volume":"81","author":"M Kato","year":"2007","unstructured":"Kato M, Saitoh S, Kamei A : A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). Am J Hum Genet 2007; 81: 361\u2013366.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2009139_CR20","doi-asserted-by":"publisher","first-page":"782","DOI":"10.1038\/ng.150","volume":"40","author":"H Saitsu","year":"2008","unstructured":"Saitsu H, Kato M, Mizuguchi T et al: De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. Nat Genet 2008; 40: 782\u2013788.","journal-title":"Nat Genet"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ejhg2009139.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2009139","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2009139.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T16:57:45Z","timestamp":1684429065000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ejhg2009139"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,9,9]]},"references-count":20,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2010,2]]}},"alternative-id":["BFejhg2009139"],"URL":"https:\/\/doi.org\/10.1038\/ejhg.2009.139","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,9,9]]}}}