{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T18:42:07Z","timestamp":1790534527566,"version":"4.1.0"},"reference-count":22,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2014,4,24]],"date-time":"2014-04-24T00:00:00Z","timestamp":1398297600000},"content-version":"vor","delay-in-days":54,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2014,3]]},"abstract":"<jats:p>Mutations in sodium channel genes are highly associated with epilepsy. Mutation of <jats:italic>SCN1A<\/jats:italic>, the gene encoding the voltage gated sodium channel (VGSC) alpha subunit type 1 (Nav1.1), causes Dravet syndrome spectrum disorders. Mutations in <jats:italic>SCN2A<\/jats:italic> have been identified in patients with benign familial neonatal\u2010infantile epilepsy (BFNIE), generalised epilepsy with febrile seizures plus (GEFS+), and a small number of reported cases of other infantile\u2010onset severe intractable epilepsy. Here, we report three patients with infantile\u2010onset severe intractable epilepsy found to have <jats:italic>de novo<\/jats:italic> mutations in <jats:italic>SCN2A<\/jats:italic>. While a causal role for these mutations cannot be directly established, these findings contribute to growing evidence that mutation of <jats:italic>SCN2A<\/jats:italic> is associated with a range of epilepsy phenotypes including severe infantile\u2010onset epilepsy.<\/jats:p>","DOI":"10.1684\/epd.2014.0641","type":"journal-article","created":{"date-parts":[[2019,8,2]],"date-time":"2019-08-02T13:24:44Z","timestamp":1564752284000},"page":"13-18","source":"Crossref","is-referenced-by-count":33,"title":["Confirming an expanded spectrum of <i>SCN2A<\/i> mutations: a case series"],"prefix":"10.1002","volume":"16","author":[{"given":"Dena","family":"Matalon","sequence":"first","affiliation":[{"name":"Division of Child Neurology, Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania  Philadelphia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ethan","family":"Goldberg","sequence":"additional","affiliation":[{"name":"Division of Child Neurology, Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania  Philadelphia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Livija","family":"Medne","sequence":"additional","affiliation":[{"name":"Division of Child Neurology, Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania  Philadelphia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric D.","family":"Marsh","sequence":"additional","affiliation":[{"name":"Division of Child Neurology, Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania  Philadelphia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,4,24]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20029"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.3389\/fphar.2011.00053"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(00)81133-2"},{"key":"e_1_2_6_5_1","first-page":"615","article-title":"De novo mutations in the sodium\u2010channel gene SCN1A cause severe myoclonic epilepsy of infancy","volume":"21","author":"Claes L","year":"2001","journal-title":"Am J Hum 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