{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T13:10:33Z","timestamp":1777468233635,"version":"3.51.4"},"reference-count":18,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2019,8,8]],"date-time":"2019-08-08T00:00:00Z","timestamp":1565222400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2019,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The seizure threshold 2 (SZT2) gene encodes a large, highly conserved protein that lowers seizure threshold and may also enhance epileptogenesis. In this study, three patients diagnosed with SZT2\u2010related developmental and epileptic encephalopathies (DEEs) were reviewed aiming to expand knowledge of the genotype and phenotype of SZT2 mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Targeted next\u2010generation sequencing was performed to identify pathogenic mutations in 205 cases with DEEs of unknown etiology. Detailed clinical and genetic data were collected from SZT2\u2010associated patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Four novel mutations were found (c.1626\u00a0+\u00a01G&gt;A, c.5772dupA, c.4209C\u00a0&gt;\u00a0A, c.7307_7308insG) in three patients. All the variants were inherited from their parents. Two patients were siblings and harbored the same mutations and presented developmental delay prior to the onset of seizures. All the individuals were diagnosed as DEEs, drug refractory epilepsy, and experienced status epilepticus (SE); one patient died of SE. One subject showed subependymal nodules as similar as those of tuberous sclerosis complex (TSC) in cranial magnetic resonance imaging (MRI).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our results expand the genotype and phenotypes of SZT2\u2010related DEEs, suggesting that SZT2 mutations play a role in developmental delay and epileptic encephalopathy, with high susceptibility to SE and relatively specific MRI findings.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.926","type":"journal-article","created":{"date-parts":[[2019,8,9]],"date-time":"2019-08-09T05:31:14Z","timestamp":1565328674000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Novel SZT2 mutations in three patients with developmental and epileptic encephalopathies"],"prefix":"10.1002","volume":"7","author":[{"given":"Xiaomin","family":"Sun","sequence":"first","affiliation":[{"name":"Ministry of Education Key Laboratory of Child Development and Disorders Children\u2019s Hospital of Chongqing Medical University Chongqing China"},{"name":"Key Laboratory of Pediatrics in Chongqing Chongqing China"},{"name":"Chongqing International Science and Technology Cooperation Center for Child Development and Disorders Chongqing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xuefei","family":"Zhong","sequence":"additional","affiliation":[{"name":"Ministry of Education Key Laboratory of Child Development and Disorders Children\u2019s Hospital of Chongqing Medical University Chongqing China"},{"name":"Key Laboratory of Pediatrics in Chongqing Chongqing China"},{"name":"Chongqing International Science and Technology Cooperation Center for Child Development and Disorders Chongqing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4536-3211","authenticated-orcid":false,"given":"Tingsong","family":"Li","sequence":"additional","affiliation":[{"name":"Ministry of Education Key Laboratory of Child Development and Disorders Children\u2019s Hospital of Chongqing Medical University Chongqing China"},{"name":"Key Laboratory of Pediatrics in Chongqing Chongqing China"},{"name":"Chongqing International Science and Technology Cooperation Center for Child Development and Disorders Chongqing China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,8,8]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.03.024"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.07.005"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2018.12.021"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0082810"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-183X.2009.00509.x"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.09.008"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.5582\/irdr.2018.01117"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.10.008"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/gbb.12492"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2017.08.003"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13258-018-0673-5"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature21378"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38717"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.13709"},{"key":"e_1_2_8_16_1","article-title":"The role of mTOR inhibitors in preventing epileptogenesis in patients with TSC: Current evidence and future perspectives","author":"Schubert\u2010Bast S.","year":"2018","journal-title":"Epilepsy & Behavior"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13061"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2016.0828"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12901"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.926","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.926","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.926","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,9]],"date-time":"2023-09-09T00:32:01Z","timestamp":1694219521000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.926"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,8,8]]},"references-count":18,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2019,9]]}},"alternative-id":["10.1002\/mgg3.926"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.926","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,8,8]]},"assertion":[{"value":"2019-04-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-07-26","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-08-08","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e926"}}