{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T16:02:23Z","timestamp":1791129743390,"version":"4.1.0"},"reference-count":36,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2013,5,10]],"date-time":"2013-05-10T00:00:00Z","timestamp":1368144000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2013,7]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Purpose<\/jats:title>\n                    <jats:p>\n                      Early onset epileptic encephalopathies (\n                      <jats:styled-content style=\"fixed-case\">EOEE<\/jats:styled-content>\n                      s) are heterogeneous epileptic disorders caused by various abnormalities in causative genes including point mutations and copy number variations (\n                      <jats:styled-content style=\"fixed-case\">CNV<\/jats:styled-content>\n                      s). In this study, we performed targeted capture and sequencing of a subset of genes to detect point mutations and\n                      <jats:styled-content style=\"fixed-case\">CNV<\/jats:styled-content>\n                      s simultaneously.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We designed\n                      <jats:styled-content style=\"fixed-case\">complementary RNA<\/jats:styled-content>\n                      oligonucleotide probes against the coding exons of 35 known and potential candidate genes. We tested 68 unrelated patients, including 15 patients with previously detected mutations as positive controls. In addition to mutation detection by the Genome Analysis Toolkit,\n                      <jats:styled-content style=\"fixed-case\">CNV<\/jats:styled-content>\n                      s were detected by the relative depth of coverage ratio. All detected events were confirmed by Sanger sequencing or genomic microarray analysis.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Key Findings<\/jats:title>\n                    <jats:p>\n                      We detected all positive control mutations. In addition, in 53 patients with\n                      <jats:styled-content style=\"fixed-case\">EOEEs<\/jats:styled-content>\n                      , we detected 12 pathogenic mutations, including 9 point mutations (2 nonsense, 3 splice\u2010site, and 4 missense mutations), 2 frameshift mutations, and one 3.7\u2010Mb microdeletion. Ten of the 12 mutations occurred de novo; the other two had been previously reported as pathogenic. The entire process of targeted capture, sequencing, and analysis required 1\u00a0week for the testing of up to 24 patients.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Significance<\/jats:title>\n                    <jats:p>\n                      Targeted capture and sequencing enables the identification of mutations of all classes causing\n                      <jats:styled-content style=\"fixed-case\">EOEEs<\/jats:styled-content>\n                      , highlighting its usefulness for rapid and comprehensive genetic testing.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/epi.12203","type":"journal-article","created":{"date-parts":[[2013,5,10]],"date-time":"2013-05-10T11:18:51Z","timestamp":1368184731000},"page":"1262-1269","source":"Crossref","is-referenced-by-count":73,"title":["Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy"],"prefix":"10.1111","volume":"54","author":[{"given":"Hirofumi","family":"Kodera","sequence":"first","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitsuhiro","family":"Kato","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Yamagata University Faculty of Medicine Yamagata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alex S.","family":"Nord","sequence":"additional","affiliation":[{"name":"Department of Genome Sciences and Department of Medicine University of Washington Seattle Washington U.S.A"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tom","family":"Walsh","sequence":"additional","affiliation":[{"name":"Department of Genome Sciences and Department of Medicine University of Washington Seattle Washington U.S.A"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ming","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Genome Sciences and Department of Medicine University of Washington Seattle Washington U.S.A"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gaku","family":"Yamanaka","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Tokyo Medical University Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Tohyama","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Nishi\u2010Niigata Chuo National Hospital Niigata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuyuki","family":"Nakamura","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan"},{"name":"Department of Pediatrics Yamagata University Faculty of Medicine Yamagata 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