{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T06:55:31Z","timestamp":1785826531254,"version":"3.56.0"},"reference-count":21,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,9,18]],"date-time":"2017-09-18T00:00:00Z","timestamp":1505692800000},"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":["Clinical Genetics"],"published-print":{"date-parts":[[2018,2]]},"abstract":"<jats:p>The seizure threshold 2 (<jats:italic><jats:styled-content style=\"fixed-case\">SZT2<\/jats:styled-content><\/jats:italic>) gene encodes a large, highly conserved protein that is associated with epileptogenesis. In mice, <jats:italic>Szt2<\/jats:italic> is abundantly expressed in the central nervous system. Recently, biallelic <jats:italic><jats:styled-content style=\"fixed-case\">SZT2<\/jats:styled-content><\/jats:italic> mutations were found in 7 patients (from 5 families) presenting with epileptic encephalopathy with dysmorphic features and\/or non\u2010syndromic intellectual disabilities. In this study, we identified by whole\u2010exome sequencing compound heterozygous <jats:italic><jats:styled-content style=\"fixed-case\">SZT2<\/jats:styled-content><\/jats:italic> mutations in 3 patients with early\u2010onset epileptic encephalopathies. Six novel <jats:italic><jats:styled-content style=\"fixed-case\">SZT2<\/jats:styled-content><\/jats:italic> mutations were found, including 3 truncating, 1 splice site and 2 missense mutations. The splice\u2010site mutation resulted in skipping of exon 20 and was associated with a premature stop codon. All individuals presented with seizures, severe developmental delay and intellectual disabilities with high variability. Brain <jats:styled-content style=\"fixed-case\">MRIs<\/jats:styled-content> revealed a characteristic thick and short corpus callosum or a persistent cavum septum pellucidum in each of the 2 cases. Interestingly, in the third case, born to consanguineous parents, had unexpected compound heterozygous missense mutations. She showed microcephaly despite the other case and previous ones presenting with macrocephaly, suggesting that <jats:italic><jats:styled-content style=\"fixed-case\">SZT2<\/jats:styled-content><\/jats:italic> mutations might affect head size.<\/jats:p>","DOI":"10.1111\/cge.13061","type":"journal-article","created":{"date-parts":[[2017,5,30]],"date-time":"2017-05-30T12:25:40Z","timestamp":1496147140000},"page":"266-274","source":"Crossref","is-referenced-by-count":29,"title":["Novel biallelic <i><scp>SZT2<\/scp><\/i> mutations in 3 cases of early\u2010onset epileptic encephalopathy"],"prefix":"10.1111","volume":"93","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7203-884X","authenticated-orcid":false,"given":"N.","family":"Tsuchida","sequence":"first","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine  Yokohama Japan"},{"name":"Department of Stem Cell and Immune Regulation Yokohama City University Graduate School of Medicine  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Nakashima","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Miyauchi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Jichi Medical University  Tochigi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Yoshitomi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Shizuoka Institute of Epilepsy and Neurological Disorders  Shizuoka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Kimizu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Shizuoka Institute of Epilepsy and Neurological Disorders  Shizuoka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Ganesan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Penang Hospital  Pulau Pinang Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.W.","family":"Teik","sequence":"additional","affiliation":[{"name":"Genetic Department Hospital Kuala Lumpur  Kuala Lumpur Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.\u2010S.","family":"Ch'ng","sequence":"additional","affiliation":[{"name":"Genetic Department Hospital Kuala Lumpur  Kuala Lumpur Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Kato","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Yamagata University Faculty of Medicine  Yamagata Japan"},{"name":"Department of Pediatrics Showa University School of Medicine  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Mizuguchi","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Takata","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Miyatake","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine  Yokohama Japan"},{"name":"Clinical Genetics Department Yokohama City University Hospital  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0987-310X","authenticated-orcid":false,"given":"N.","family":"Miyake","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Osaka","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Jichi Medical University  Tochigi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Yamagata","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Jichi Medical University  Tochigi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Nakajima","sequence":"additional","affiliation":[{"name":"Department of Stem Cell and Immune Regulation Yokohama City University Graduate School of Medicine  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Saitsu","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Hamamatsu University School of Medicine  Hamamatsu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Matsumoto","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,9,18]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2010.02522.x"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2012.06.002"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(15)00250-1"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13073-015-0214-7"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2016.27"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2562"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.186"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.07.005"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0082810"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2016.0828"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24650"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature21423"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature21378"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-183X.2009.00509.x"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2009.86"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.092619.109"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2890"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22225"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pcbi.1001025"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.097857.109"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.13061","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13061","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,28]],"date-time":"2023-09-28T07:24:45Z","timestamp":1695885885000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13061"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,9,18]]},"references-count":21,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2018,2]]}},"alternative-id":["10.1111\/cge.13061"],"URL":"https:\/\/doi.org\/10.1111\/cge.13061","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,9,18]]}}}