{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:23:24Z","timestamp":1777803804829,"version":"3.51.4"},"reference-count":14,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2013,3,1]],"date-time":"2013-03-01T00:00:00Z","timestamp":1362096000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2014,2]]},"abstract":"<jats:p>\n                    The voltage-gated sodium channel genes and\n                    <jats:italic>HOXD<\/jats:italic>\n                    genes are clustered on chromosome 2q, and duplication of this region is associated with 2 clinical phenotypes: early-onset epilepsy and mesomelic dysplasia Kantaputra type, respectively. We report a case involving 2q24.3\u20132q32.1 duplication encompassing both the voltage-gated sodium channel and\n                    <jats:italic>HOXD<\/jats:italic>\n                    gene clusters, which were detected by a comparative genomic hybridization array. The associated clinical features were early-infantile-onset epilepsy, hypoplastic left heart syndrome, and global developmental delay. However, no features of mesomelic dysplasia were found. A fluorescent in situ hybridization study showed that the noncontiguous insertion of the duplicated chromosome 2q segment into chromosome 6q was inherited from the father, who has a balanced insertional translocation. The unique genotype\u2013phenotype correlation in the present case suggests that dosage-sensitive effects might apply only to the voltage-gated sodium channel genes.\n                  <\/jats:p>","DOI":"10.1177\/0883073813478659","type":"journal-article","created":{"date-parts":[[2013,3,2]],"date-time":"2013-03-02T05:54:20Z","timestamp":1362203660000},"page":"260-264","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":9,"title":["A Unique Phenotype of 2q24.3\u20132q32.1 Duplication"],"prefix":"10.1177","volume":"29","author":[{"given":"Byung Chan","family":"Lim","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Seoul National University Children\u2019s Hospital, Seoul National University College of Medicine, Seoul, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Byung-Joo","family":"Min","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, Seoul National University College of Medicine, Seoul, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Woong-Yang","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, Seoul National University College of Medicine, Seoul, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sun Kyung","family":"Oh","sequence":"additional","affiliation":[{"name":"Institute of Reproductive Medicine and Population, Medical Research Center, Seoul National University, Seoul, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mi Jung","family":"Woo","sequence":"additional","affiliation":[{"name":"Institute of Reproductive Medicine and Population, Medical Research Center, Seoul National University, Seoul, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jin Sun","family":"Choi","sequence":"additional","affiliation":[{"name":"Institute of Reproductive Medicine and Population, Medical Research Center, Seoul National University, Seoul, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ki Joong","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seoul National University Children\u2019s Hospital, Seoul National University College of Medicine, Seoul, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yong Seung","family":"Hwang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seoul National University Children\u2019s Hospital, Seoul National University College of Medicine, Seoul, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jong Hee","family":"Chae","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seoul National University Children\u2019s Hospital, Seoul National University College of Medicine, Seoul, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2013,3]]},"reference":[{"key":"e_1_3_4_2_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2010.02558.x"},{"key":"e_1_3_4_3_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2011.03139.x"},{"key":"e_1_3_4_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33929"},{"key":"e_1_3_4_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2011.07.008"},{"key":"e_1_3_4_6_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.074690"},{"key":"e_1_3_4_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.116"},{"key":"e_1_3_4_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2008.12.024"},{"key":"e_1_3_4_9_2","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.2010.188482"},{"key":"e_1_3_4_10_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2011.02997.x"},{"key":"e_1_3_4_11_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.062323"},{"key":"e_1_3_4_12_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2009.02013.x"},{"key":"e_1_3_4_13_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature00779"},{"key":"e_1_3_4_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/nn1754"},{"key":"e_1_3_4_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/nn1499"}],"container-title":["Journal 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