{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T23:34:29Z","timestamp":1777937669851,"version":"3.51.4"},"reference-count":17,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2025,6,19]],"date-time":"2025-06-19T00:00:00Z","timestamp":1750291200000},"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":["Pediatr Dev Pathol"],"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:p>\n                    Lennox-Gastaut syndrome is a form of severe childhood epilepsy caused by a variety of etiologies including structural abnormalities, inflammatory conditions affecting the brain, malignancy, injury, or unknown causes. Sodium channelopathies have been linked to multiple seizure disorders, including Lennox-Gastaut syndrome, due to their role in action potential propagation in the brain.\n                    <jats:italic toggle=\"yes\">SCN2A<\/jats:italic>\n                    is one such voltage gated sodium channel found primarily in the central nervous system. We present a case of a 6-year-old female with Lennox-Gastaut syndrome and a heterozygous\n                    <jats:italic toggle=\"yes\">SCN2A<\/jats:italic>\n                    variant who became unresponsive during a supervised bath and later died. The neuropathologic exam was remarkable for dentato-olivary dysplasia, among other gross and microscopic abnormalities. We present this case highlighting rarely documented neuropathologic findings in Lennox-Gastaut syndrome associated with a channelopathy (\n                    <jats:italic toggle=\"yes\">SCN2A<\/jats:italic>\n                    variant) as well as a review of literature of previously reported brain abnormalities in patients with\n                    <jats:italic toggle=\"yes\">SCN2A<\/jats:italic>\n                    variants.\n                  <\/jats:p>","DOI":"10.1177\/10935266251345684","type":"journal-article","created":{"date-parts":[[2025,6,19]],"date-time":"2025-06-19T05:56:37Z","timestamp":1750312597000},"page":"420-424","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Neuropathologic Findings in Lennox-Gastaut Syndrome (SCN2A-Related): A Case Report and Review of Literature"],"prefix":"10.1177","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-8044-6407","authenticated-orcid":false,"given":"Conner","family":"Thompson","sequence":"first","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, SC, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0327-6793","authenticated-orcid":false,"given":"Katsiaryna","family":"Khatskevich","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, SC, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-4638-2425","authenticated-orcid":false,"given":"Cynthia T.","family":"Welsh","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, SC, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9576-7110","authenticated-orcid":false,"given":"Tiffany G.","family":"Baker","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, SC, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-0389-9270","authenticated-orcid":false,"given":"Daniel C.","family":"Butler","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, SC, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2025,6,19]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1007\/s13311-023-01397-x"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-017-3188-y"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12137"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1111\/nan.12409"},{"key":"e_1_3_2_6_2","first-page":"47","volume-title":"The Lennox-Gastaut Syndrome","author":"Ohtahara S","year":"1988","unstructured":"Ohtahara S, Ohtsuka Y, Yoshinaga H, Oka E, Yoshinaga H, Sato M. Lennox-Gastaut syndrome: etiological considerations. In: Niedermeyer E, Degen R, eds. The Lennox-Gastaut Syndrome. Alan R. Liss, Inc; 1988, pp.47-63."},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.autneu.2021.102907"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001926"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2011.02.008"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1177\/1179573519849938"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12554"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2017.01.014"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1111\/nan.12409"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.1007\/s12041-019-1104-3"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2020.106323"},{"key":"e_1_3_2_16_2","doi-asserted-by":"publisher","DOI":"10.3760\/cma.j.cn112140-20210610-00491"},{"key":"e_1_3_2_17_2","doi-asserted-by":"publisher","DOI":"10.3389\/fnmol.2022.809951"},{"key":"e_1_3_2_18_2","volume-title":"Unexplained Pediatric Deaths: Investigation, Certification, and Family Needs","author":"Bundock EA","year":"2019","unstructured":"Bundock EA, Corey TS, et al. eds. Unexplained Pediatric Deaths: Investigation, Certification, and Family Needs. The National Association of Medical Examiners\u2019 Panel on Sudden Unexpected Death in Pediatrics. Academic Forensic Pathology International; 2019."}],"container-title":["Pediatric and Developmental Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/10935266251345684","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/10935266251345684","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/10935266251345684","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T04:11:47Z","timestamp":1777695107000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/10935266251345684"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6,19]]},"references-count":17,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2025,9]]}},"alternative-id":["10.1177\/10935266251345684"],"URL":"https:\/\/doi.org\/10.1177\/10935266251345684","relation":{},"ISSN":["1093-5266","1615-5742"],"issn-type":[{"value":"1093-5266","type":"print"},{"value":"1615-5742","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,6,19]]}}}