{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T08:33:00Z","timestamp":1781080380663,"version":"3.54.1"},"reference-count":9,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,7]]},"abstract":"<jats:p>Homozygous or compound heterozygous mutations in <jats:italic toggle=\"yes\">STRADA<\/jats:italic> cause polyhydramnios, megalencephaly and symptomatic epilepsy syndrome (PMSE), with additional features of distinctive facial traits and severe developmental delay or intellectual disability. This syndrome was first defined in 16 Old Order Mennonite patients, carrying a homozygous <jats:italic toggle=\"yes\">STRADA<\/jats:italic> deletion of exon 9\u201313. Five additional PMSE patients have been reported since, each of them with loss-of-function variants. We report a female patient with the typical clinical features of PMSE, homozygous for a novel <jats:italic toggle=\"yes\">STRADA<\/jats:italic> missense mutation c.792T&gt;A (p.Ser264Arg) in exon 10. This finding contributes to the further delineation of the phenotype of PMSE.<\/jats:p>","DOI":"10.1097\/mcd.0000000000000368","type":"journal-article","created":{"date-parts":[[2021,2,27]],"date-time":"2021-02-27T01:28:17Z","timestamp":1614389297000},"page":"121-124","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":7,"title":["Homozygous missense STRADA mutation in a patient with polyhydramnios, megalencephaly and symptomatic epilepsy syndrome"],"prefix":"10.1097","volume":"30","author":[{"given":"Mio","family":"Aerden","sequence":"first","affiliation":[{"name":"Center for Human Genetics, Department for Human Genetics, University Hospitals Leuven \u2013 Katholieke Universiteit Leuven, Leuven"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lore","family":"Vallaeys","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, AZ Groeninge, 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