{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T15:30:13Z","timestamp":1789399813253,"version":"build-2803163510"},"reference-count":12,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2014,6,18]],"date-time":"2014-06-18T00:00:00Z","timestamp":1403049600000},"content-version":"vor","delay-in-days":17,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2014,6]]},"abstract":"<jats:p>We report a female patient who presented with intractable epileptic seizures, profound developmental delay since early infancy, and hyperkinetic movements with hand stereotypies. The patient initially developed focal seizures with multiple foci at 3 months of age. Thereafter, the seizures evolved to frequent episodes of hyperthermia\u2010induced status epilepticus. A novel <jats:italic>de novo SCN1A<\/jats:italic> mutation was identified by whole\u2010exome sequence analysis. This case demonstrates that <jats:italic>SCN1A<\/jats:italic> mutations may cause movement disorders as an atypical phenotype and the case history of this patient may expand our understanding of the clinical spectrum of <jats:italic>SCN1A<\/jats:italic>\u2010associated epileptic encephalopathy. [<jats:italic>Published with video sequences<\/jats:italic>]<\/jats:p>","DOI":"10.1684\/epd.2014.0649","type":"journal-article","created":{"date-parts":[[2019,8,2]],"date-time":"2019-08-02T13:24:44Z","timestamp":1564752284000},"page":"208-212","source":"Crossref","is-referenced-by-count":23,"title":["Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel <i>SCN1A<\/i> mutation"],"prefix":"10.1002","volume":"16","author":[{"given":"Tsukasa","family":"Ohashi","sequence":"first","affiliation":[{"name":"Department of Child Neurology Nishi\u2010Niigata Chuo National Hospital  Niigata"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noriyuki","family":"Akasaka","sequence":"additional","affiliation":[{"name":"Department of Child Neurology Nishi\u2010Niigata Chuo National Hospital  Niigata"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Kobayashi","sequence":"additional","affiliation":[{"name":"Department of Child Neurology Nishi\u2010Niigata Chuo National Hospital  Niigata"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinichi","family":"Magara","sequence":"additional","affiliation":[{"name":"Department of Child Neurology Nishi\u2010Niigata Chuo National Hospital  Niigata"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideshi","family":"Kawashima","sequence":"additional","affiliation":[{"name":"Department of Child Neurology Nishi\u2010Niigata Chuo National Hospital  Niigata"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine  Yokohama"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirotomo","family":"Saitsu","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine  Yokohama"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Tohyama","sequence":"additional","affiliation":[{"name":"Department of Child Neurology Nishi\u2010Niigata Chuo National Hospital  Niigata"},{"name":"Niigata University Medical and Dental Hospital  Niigata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,6,18]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e318227046d"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181f4d7bf"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2012.03656.x"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000266594.16202.c1"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm002"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12168"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.23164"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0041802"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt073"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2011.03163.x"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.07.014"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(03)00025-1"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1684\/epd.2014.0649","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T16:04:07Z","timestamp":1710777847000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1684\/epd.2014.0649"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,6]]},"references-count":12,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2014,6]]}},"alternative-id":["10.1684\/epd.2014.0649"],"URL":"https:\/\/doi.org\/10.1684\/epd.2014.0649","archive":["Portico"],"relation":{},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,6]]}}}