{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T20:38:28Z","timestamp":1778618308352,"version":"3.51.4"},"reference-count":17,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2013,11,20]],"date-time":"2013-11-20T00:00:00Z","timestamp":1384905600000},"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                    Genetic (generalized) epilepsy with febrile seizures plus is a familial epilepsy syndrome with marked phenotypic heterogeneity ranging from simple febrile seizure to severe phenotypes. Here we report on a large Israeli family with genetic (generalized) epilepsy with febrile seizures plus and 14 affected individuals. A novel\n                    <jats:italic>SCN1A<\/jats:italic>\n                    missense mutation in exon 21 (p.K1372E) was identified in all affected individuals and 3 unaffected carriers. The proband had Dravet syndrome, whereas febrile seizure plus phenotypes were present in all other affected family members. Simple febrile seizures were not observed. Phenotypes were found at both extremes of the genetic (generalized) epilepsy with febrile seizures plus spectrum and distribution of phenotypes suggested modifying familial, possibly genetic factors. We suggest that families with extreme phenotype distributions can represent prime candidates for the identification of genetic or environmental modifiers.\n                  <\/jats:p>","DOI":"10.1177\/0883073813509016","type":"journal-article","created":{"date-parts":[[2013,11,20]],"date-time":"2013-11-20T21:47:05Z","timestamp":1384984025000},"page":"221-226","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":47,"title":["Broad Phenotypic Heterogeneity due to a Novel\n                    <i>SCN1A<\/i>\n                    Mutation in a Family With Genetic Epilepsy With Febrile Seizures Plus"],"prefix":"10.1177","volume":"29","author":[{"given":"Hadassa","family":"Goldberg-Stern","sequence":"first","affiliation":[{"name":"Department of Pediatric and Adolescent Neurology, Epilepsy Center, Schneider Children\u2019s Medical Center of Israel, Petach Tikva, Israel"},{"name":"Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sharon","family":"Aharoni","sequence":"additional","affiliation":[{"name":"Department of Pediatric and Adolescent Neurology, Epilepsy Center, Schneider Children\u2019s Medical Center of Israel, Petach Tikva, Israel"},{"name":"Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zaid","family":"Afawi","sequence":"additional","affiliation":[{"name":"Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Odeya","family":"Bennett","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit, Hadassah-Hebrew University Medical Center, Jerusalem, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silke","family":"Appenzeller","sequence":"additional","affiliation":[{"name":"Institute of Experimental Medicine and Department of Neurology, Christian-Albrechts-University of Kiel and University Medical Center Schleswig-Holstein, Kiel, Germany"},{"name":"Department of Neuropediatrics, Christian-Albrechts-University of Kiel and University Medical Center Schleswig-Holstein, Kiel, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manuela","family":"Pendziwiat","sequence":"additional","affiliation":[{"name":"Institute of Experimental Medicine and Department of Neurology, Christian-Albrechts-University of Kiel and University Medical Center Schleswig-Holstein, Kiel, Germany"},{"name":"Department of Neuropediatrics, Christian-Albrechts-University of Kiel and University Medical Center Schleswig-Holstein, Kiel, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gregor","family":"Kuhlenb\u00e4umer","sequence":"additional","affiliation":[{"name":"Institute of Experimental Medicine and Department of Neurology, Christian-Albrechts-University of Kiel and University Medical Center Schleswig-Holstein, Kiel, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lina","family":"Basel-Vanagaite","sequence":"additional","affiliation":[{"name":"Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel"},{"name":"Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petach Tikva, Israel"},{"name":"Felsenstein Medical Research Center, Rabin Medical Center, Petach Tikva, Israel"},{"name":"Pediatric Genetics, Schneider Children\u2019s Medical Center of Israel, Petach Tikva, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Avinoam","family":"Shuper","sequence":"additional","affiliation":[{"name":"Department of Pediatric and Adolescent Neurology, Epilepsy Center, Schneider Children\u2019s Medical Center of Israel, Petach Tikva, Israel"},{"name":"Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amos D.","family":"Korczyn","sequence":"additional","affiliation":[{"name":"Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel"},{"name":"Tel Aviv Sourasky Medical Center, Tel Aviv, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ingo","family":"Helbig","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics, Christian-Albrechts-University of Kiel and University Medical Center Schleswig-Holstein, Kiel, Germany"},{"name":"Zlotowski Center for Neuroscience, Ben-Gurion University, Beer-Sheva, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2013,11,20]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2011.03965.x"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2009.02115.x"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2009.01.001"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0501-46"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh146"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.58.9.1426"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm248"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm002"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000069463.41870.2F"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi355"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9419"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2008.07.017"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2008.04.003"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2010.02640.x"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000649"},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2010.0311"},{"key":"e_1_3_3_18_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2010.02790.x"}],"container-title":["Journal 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