{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T09:05:48Z","timestamp":1781082348092,"version":"3.54.1"},"reference-count":6,"publisher":"SAGE Publications","issue":"14","license":[{"start":{"date-parts":[[2018,10,12]],"date-time":"2018-10-12T00:00:00Z","timestamp":1539302400000},"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":[[2018,12]]},"abstract":"<jats:p>Mutations in the STE20-related kinase adaptor \u03b1 ( STRADA) gene have been reported to cause an autosomal recessive neurodevelopmental disorder characterized by infantile-onset epilepsy, developmental delay, and craniofacial dysmorphisms. To date, there have been 17 reported individuals diagnosed with STRADA mutations, 16 of which are from a single Old Order Mennonite cohort and share a deletion of exons 9-13. The remaining individual is of consanguineous Indian descent and has a homozygous single\u2013base pair duplication. We report a novel STRADA gene deletion of exons 7-9 in 2 sisters from nonconsanguineous parents, as well as an improvement in seizure control in 1 sibling following treatment with sirolimus, an m-Tor inhibitor of potential benefit to patients with this genetic mutation.<\/jats:p>","DOI":"10.1177\/0883073818802724","type":"journal-article","created":{"date-parts":[[2018,10,12]],"date-time":"2018-10-12T08:03:48Z","timestamp":1539331428000},"page":"925-929","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":9,"title":["Novel Homozygous Deletion in\n                    <i>STRADA<\/i>\n                    Gene Associated With Polyhydramnios, Megalencephaly, and Epilepsy in 2 Siblings: Implications for Diagnosis and Treatment"],"prefix":"10.1177","volume":"33","author":[{"given":"Katherine","family":"Nelson","sequence":"first","affiliation":[{"name":"Department of Medical and Molecular Genetics, Indiana University Health, Indianapolis, IN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher","family":"Jackman","sequence":"additional","affiliation":[{"name":"Department of Neurology, Division of Child Neurology, Indiana University School of Medicine, Indianapolis, IN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Bell","sequence":"additional","affiliation":[{"name":"Department of Pediatric Oncology, Indiana University School of Medicine, Indianapolis, IN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chie-Schin","family":"Shih","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Hematology\/Oncology, Indiana University School of Medicine, Indianapolis, IN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katelyn","family":"Payne","sequence":"additional","affiliation":[{"name":"Department of Neurology, Division of Child Neurology, Indiana University School of Medicine, Indianapolis, IN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen","family":"Dlouhy","sequence":"additional","affiliation":[{"name":"Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Walsh","sequence":"additional","affiliation":[{"name":"Department of Neurology, Division of Child Neurology, Indiana University School of Medicine, Indianapolis, IN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2018,10,12]]},"reference":[{"key":"bibr1-0883073818802724","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.051011"},{"key":"bibr2-0883073818802724","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm100"},{"key":"bibr3-0883073818802724","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37727"},{"key":"bibr4-0883073818802724","doi-asserted-by":"publisher","DOI":"10.1172\/JCI41592"},{"key":"bibr5-0883073818802724","doi-asserted-by":"publisher","DOI":"10.1038\/nri2546"},{"key":"bibr6-0883073818802724","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3005271"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073818802724","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0883073818802724","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073818802724","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:39:40Z","timestamp":1777495180000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0883073818802724"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,10,12]]},"references-count":6,"journal-issue":{"issue":"14","published-print":{"date-parts":[[2018,12]]}},"alternative-id":["10.1177\/0883073818802724"],"URL":"https:\/\/doi.org\/10.1177\/0883073818802724","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,10,12]]}}}