{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T03:03:20Z","timestamp":1790219000279,"version":"4.1.0"},"reference-count":9,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2016,6,29]],"date-time":"2016-06-29T00:00:00Z","timestamp":1467158400000},"content-version":"vor","delay-in-days":28,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2016,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Advances in genetic testing have led to the identification of increasing numbers of novel gene mutations that underlie infantile\u2010onset epileptic encephalopathies. Recently, a mutagenesis screen identified a novel gene, <jats:italic>SZT2<\/jats:italic>, with no known protein function that has been linked to epileptogenesis in mice. Thus far, two clinical reports have identified children with different recessive mutations in <jats:italic>SZT2<\/jats:italic> and varying clinical phenotypes. One case report described patients with epileptic encephalopathy and the other noted patients with cognitive deficiencies, but normal MRI and no epilepsy. This case report identifies novel mutations (a compound heterozygous frameshift and a nonsense variant) in the <jats:italic>SZT2<\/jats:italic> gene with distinct clinical and radiographic findings relative to those previously reported. Our patient presented with intractable epilepsy at 2 months of age. Seizures were refractory to numerous antiepileptic medications and the patient finally achieved seizure cessation at age 3 years with a combination of divalproex and lamotrigine. Our patient had similar facial dysmorphisms (macrocephaly, high forehead, and down\u2010slanted palpebral fissures) to a previous case with truncating mutation. While developmental delay and cognitive deficiencies were present, our case had unique MRI findings suggesting migrational abnormalities not previously reported in other cases.<\/jats:p>","DOI":"10.1684\/epd.2016.0828","type":"journal-article","created":{"date-parts":[[2019,8,2]],"date-time":"2019-08-02T13:24:29Z","timestamp":1564752269000},"page":"195-200","source":"Crossref","is-referenced-by-count":31,"title":["Early\u2010life epileptic encephalopathy secondary to <i>SZT2<\/i> pathogenic recessive variants"],"prefix":"10.1002","volume":"18","author":[{"given":"Charu","family":"Venkatesan","sequence":"first","affiliation":[{"name":"Division of Neurology Cincinnati Child ren's Hospital Medical Center  Cincinnati Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brad","family":"Angle","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Genetics Ann &amp; Robert H. Lurie Children's Hospital of Chicago, and the Northwestern University Feinberg School of Medicine  Chicago Illinois"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John J.","family":"Millichap","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Divisions of Neurology &amp; Epilepsy Ann &amp; Robert H. Lurie Children's Hospital of Chicago, and the Northwestern University Feinberg School of Medicine  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,6,29]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.07.005"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36742"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36003"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt249"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0082810"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-183X.2009.00509.x"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2011.11.003"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awu051"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/WNP.0b013e31826bd961"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1684\/epd.2016.0828","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T16:03:46Z","timestamp":1710777826000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1684\/epd.2016.0828"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,6]]},"references-count":9,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2016,6]]}},"alternative-id":["10.1684\/epd.2016.0828"],"URL":"https:\/\/doi.org\/10.1684\/epd.2016.0828","archive":["Portico"],"relation":{},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,6]]}}}