{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T17:46:47Z","timestamp":1792000007630,"version":"4.4.0"},"reference-count":14,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2016,6,27]],"date-time":"2016-06-27T00:00:00Z","timestamp":1466985600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100007449","name":"Takeda Science Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007449","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2016,7]]},"abstract":"<jats:title>Summary<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Early\u2010onset epileptic encephalopathy (EOEE) is a heterogeneous group of neurodevelopmental disorders characterised by infantile\u2010onset intractable epilepsy and unfavourable developmental outcomes. Hundreds of mutations have been reported to cause EOEE; however, little is known about the clinical features of individuals with rare variants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case report and methods<\/jats:title><jats:p>We present a 10\u2010year\u2010old boy with severe developmental delay. He started experiencing recurrent focal seizures at 2 months old. Serial electroencephalograms persistently detected epileptiform discharges from the left hemisphere. Whole\u2010exome sequencing and array\u2010comparative genome hybridization were performed to search for <jats:italic>de novo<\/jats:italic> variations. Two\u2010week\u2010old C57Bl\/6 mice were used for immunofluorescence studies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>This case had a paternally inherited, 0.2\u2010Mb duplication at chromosome 22q11.22. The whole\u2010exome sequencing identified a <jats:italic>de novo<\/jats:italic> truncating mutation of <jats:italic>tripartite motif containing 8<\/jats:italic> (<jats:italic>TRIM8<\/jats:italic>) (NM_030912:c.1099_1100insG:p.C367fs), one of the epileptic encephalopathy\u2010associated genes. We verified that the murine homologues of these genes are expressed in the postnatal mouse brain.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This is the second case of EOEE caused by a <jats:italic>de novo<\/jats:italic> truncating mutation of <jats:italic>TRIM8<\/jats:italic>. Further studies are required to determine the functional roles of <jats:italic>TRIM8<\/jats:italic> in the postnatal development of the human brain and its functional relationships with other EOEE\u2010associated genes.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ahg.12157","type":"journal-article","created":{"date-parts":[[2016,6,27]],"date-time":"2016-06-27T06:42:10Z","timestamp":1467009730000},"page":"235-240","source":"Crossref","is-referenced-by-count":30,"title":["<i>De Novo<\/i> Truncating Mutation of <i>TRIM8<\/i> Causes Early\u2010Onset Epileptic Encephalopathy"],"prefix":"10.1111","volume":"80","author":[{"given":"Yasunari","family":"Sakai","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Graduate School of Medical Sciences Kyushu University  Fukuoka 812\u20108582 Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryoko","family":"Fukai","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University School of Medicine  Yokohama 236\u20100004 Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuki","family":"Matsushita","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Graduate School of Medical Sciences Kyushu University  Fukuoka 812\u20108582 Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noriko","family":"Miyake","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University School of Medicine  Yokohama 236\u20100004 Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirotomo","family":"Saitsu","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University School of Medicine  Yokohama 236\u20100004 Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoshi","family":"Akamine","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Graduate School of Medical Sciences Kyushu University  Fukuoka 812\u20108582 Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michiko","family":"Torio","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Graduate School of Medical Sciences Kyushu University  Fukuoka 812\u20108582 Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Momoko","family":"Sasazuki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Graduate School of Medical Sciences Kyushu University  Fukuoka 812\u20108582 Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshito","family":"Ishizaki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Graduate School of Medical Sciences Kyushu University  Fukuoka 812\u20108582 Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masafumi","family":"Sanefuji","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Graduate School of Medical Sciences Kyushu University  Fukuoka 812\u20108582 Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroyuki","family":"Torisu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Graduate School of Medical Sciences Kyushu University  Fukuoka 812\u20108582 Japan"},{"name":"Section of Pediatrics, Department of Medicine Fukuoka Dental College  Fukuoka 814\u20100193 Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chad A","family":"Shaw","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston 77030 TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University School of Medicine  Yokohama 236\u20100004 Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshiro","family":"Hara","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Graduate School of Medical Sciences Kyushu University  Fukuoka 812\u20108582 Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,6,27]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.806"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn1013"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature12439"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.conb.2012.02.012"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.107524.110"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.07.014"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1003523"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nri2413"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.09.001"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2013.06.009"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3002166"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn.3484"},{"key":"e_1_2_8_14_1","first-page":"11.10.1","article-title":"From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline","volume":"11","author":"Der Auwera G. A.","year":"2013","journal-title":"Curr Protoc Bioinformatics"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkq603"}],"container-title":["Annals of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fahg.12157","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ahg.12157","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T03:51:26Z","timestamp":1696477886000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ahg.12157"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,6,27]]},"references-count":14,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2016,7]]}},"alternative-id":["10.1111\/ahg.12157"],"URL":"https:\/\/doi.org\/10.1111\/ahg.12157","archive":["Portico"],"relation":{},"ISSN":["0003-4800","1469-1809"],"issn-type":[{"value":"0003-4800","type":"print"},{"value":"1469-1809","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,6,27]]}}}