{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T20:24:34Z","timestamp":1785183874553,"version":"3.55.0"},"reference-count":39,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,1,3]],"date-time":"2021-01-03T00:00:00Z","timestamp":1609632000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003669","name":"Korea Centers for Disease Control and Prevention","doi-asserted-by":"publisher","award":["2018\u2010ER6901\u201002"],"award-info":[{"award-number":["2018\u2010ER6901\u201002"]}],"id":[{"id":"10.13039\/501100003669","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004332","name":"Seoul National University Hospital","doi-asserted-by":"publisher","award":["0420200770"],"award-info":[{"award-number":["0420200770"]}],"id":[{"id":"10.13039\/501100004332","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    This study aimed to evaluate the clinical utility of whole\u2010exome sequencing in a group of infantile\u2010onset epilepsy patients who tested negative for epilepsy using a gene panel test. Whole\u2010exome sequencing was performed on 59 patients who tested negative on customized epilepsy gene panel testing. We identified eight pathogenic or likely pathogenic sequence variants in eight different genes (\n                    <jats:italic>FARS2<\/jats:italic>\n                    ,\n                    <jats:italic>YWHAG<\/jats:italic>\n                    ,\n                    <jats:italic>KCNC1<\/jats:italic>\n                    ,\n                    <jats:italic>DYRK1A<\/jats:italic>\n                    ,\n                    <jats:italic>SMC1A<\/jats:italic>\n                    ,\n                    <jats:italic>PIGA<\/jats:italic>\n                    ,\n                    <jats:italic>OGT<\/jats:italic>\n                    , and\n                    <jats:italic>FGF12<\/jats:italic>\n                    ), one pathogenic structural variant (8.6 Mb\u2010sized deletion on chromosome X [140\u2009994\u2009419\u2013149\u2009630\u2009805]), and three putative low\u2010frequency mosaic variants from three different genes (\n                    <jats:italic>GABBR2<\/jats:italic>\n                    ,\n                    <jats:italic>MTOR<\/jats:italic>\n                    , and\n                    <jats:italic>CUX1<\/jats:italic>\n                    ). Subsequent whole\u2010exome sequencing revealed an additional 8% of diagnostic yield with genetic confirmation of epilepsy in 55.4% (62\/112) of our cohort. Three genes (\n                    <jats:italic>YWHAG<\/jats:italic>\n                    ,\n                    <jats:italic>KCNC1<\/jats:italic>\n                    , and\n                    <jats:italic>FGF12<\/jats:italic>\n                    ) were identified as epilepsy\u2010causing genes after the original gene panel was designed. The others were initially linked with mitochondrial encephalopathy or different neurodevelopmental disorders, although an epilepsy phenotype was listed as one of the clinical features. Application of whole\u2010exome sequencing following epilepsy gene panel testing provided 8% of additional diagnostic yield in an infantile\u2010onset epilepsy cohort. Whole\u2010exome sequencing could provide an opportunity to reanalyze newly recognized epilepsy\u2010linked genes without updating the gene panel design.\n                  <\/jats:p>","DOI":"10.1111\/cge.13903","type":"journal-article","created":{"date-parts":[[2020,12,22]],"date-time":"2020-12-22T12:57:13Z","timestamp":1608641833000},"page":"418-424","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":36,"title":["Genetic diagnosis of infantile\u2010onset epilepsy in the clinic: Application of whole\u2010exome sequencing following epilepsy gene panel testing"],"prefix":"10.1111","volume":"99","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2240-3647","authenticated-orcid":false,"given":"Soo Yeon","family":"Kim","sequence":"first","affiliation":[{"name":"Department of Pediatrics Pediatric Neuroscience Center, Seoul National University Children's Hospital, Seoul National University Children's Hospital  Seoul South Korea"},{"name":"Rare Diseases Center Seoul National University Hospital  Seoul South Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Se Song","family":"Jang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Pediatric Neuroscience Center, Seoul National University Children's Hospital, Seoul National University Children's Hospital  Seoul South Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hunmin","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Seoul National University Bundang Hospital  Gyeonggi\u2010do South Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hee","family":"Hwang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Seoul National University Bundang Hospital  Gyeonggi\u2010do South Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ji Eun","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Seoul National University Boramae Medical Center  Seoul South Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jong\u2010Hee","family":"Chae","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Pediatric Neuroscience Center, Seoul National University Children's Hospital, Seoul National University Children's Hospital  Seoul South Korea"},{"name":"Rare Diseases Center Seoul National University Hospital  Seoul South Korea"},{"name":"Department of Pediatrics Seoul National University College of Medicine  Seoul South Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ki Joong","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Pediatric Neuroscience Center, Seoul National University Children's Hospital, Seoul National University Children's Hospital  Seoul South Korea"},{"name":"Department of Pediatrics Seoul National University College of Medicine  Seoul South Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Byung Chan","family":"Lim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Pediatric Neuroscience Center, Seoul National University Children's Hospital, Seoul National University Children's Hospital  Seoul South Korea"},{"name":"Rare Diseases Center Seoul National University Hospital  Seoul South Korea"},{"name":"Department of Pediatrics Seoul National University College of Medicine  Seoul South Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,1,3]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0198-25"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0920-1211(03)00037-8"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.23620"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103263"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0188978"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2018.02.003"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13760-016-0709-z"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2017.09.003"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.14074"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2018.05.005"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.186"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/epi4.12282"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2017.02.001"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.14618"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awz195"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23149"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2019.00988"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.07.004"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3144"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000002752"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds294"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101251"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.11.031"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.RA118.002583"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2015.09.007"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2019-0599"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.13669"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000389"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.29"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2019.01.001"},{"key":"e_1_2_8_33_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000120"},{"key":"e_1_2_8_34_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000133"},{"key":"e_1_2_8_35_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.13662"},{"key":"e_1_2_8_36_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2018.39"},{"key":"e_1_2_8_37_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMc1812033"},{"key":"e_1_2_8_38_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2019.03.037"},{"key":"e_1_2_8_39_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.13514"},{"key":"e_1_2_8_40_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.13889"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13903","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.13903","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13903","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T16:59:27Z","timestamp":1693587567000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13903"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,1,3]]},"references-count":39,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2021,3]]}},"alternative-id":["10.1111\/cge.13903"],"URL":"https:\/\/doi.org\/10.1111\/cge.13903","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.13903\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13903\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13903\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13903\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13903\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13903\/v2\/review1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,1,3]]},"assertion":[{"value":"2020-10-22","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-12-17","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-01-03","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}