{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T10:01:18Z","timestamp":1784282478863,"version":"3.55.0"},"reference-count":14,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T00:00:00Z","timestamp":1698710400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations in the gene encoding syntaxin binding protein 1 (STXBP1) have been implicated in a wide variety of epileptic encephalopathies. Although the recognized phenotypes of patients with STXBP1 encephalopathies have broadened in recent years, no case of reflex seizures, particularly musicogenic seizures, has been reported in the literature. We present an 18\u2010year\u2010old woman with STXBP1 encephalopathy and seizures that are stereotypically reproducible in response to a variety of audible stimuli. An 18\u2010year\u2010old woman with a history of profound intellectual disability, confirmed STXBP1 genetic defect via genetic testing, and seizures beginning as infantile spasms during childhood, who presented to the epilepsy monitoring unit for seizure characterization. Her mother reported reproducible seizures triggered by a particular cell phone ringtone, music from a certain automobile television commercial and certain beeping alarm sounds. In response, the patient had clinically stereotyped seizures associated with staring, behavioral arrest, followed by eye deviation to the left, tonic stiffening in upper and lower extremities, and labored breathing lasting between 30\u2009s and 2\u2009min. These seizures were reliably reproducible within a few seconds of exposure to the auditory stimulus. During hospitalization, mother played one of the cell phone ringtones known to trigger seizures for the patient, which resulted in induction of a seizure characterized by diffuse electrodecrement, subsequent emergence of frontal\u2010predominant theta which was followed by progressive diffuse attenuation and semi\u2010rhythmic slowing over the right posterior quadrant. This is the first case to describe musicogenic or other reflex seizures in a patient with STXBP1 encephalopathy.<\/jats:p>","DOI":"10.1002\/epd2.20157","type":"journal-article","created":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T12:50:22Z","timestamp":1697806222000},"page":"886-889","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Musicogenic seizures\u2014STXBP1 encephalopathy with reflex seizures"],"prefix":"10.1002","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8287-2117","authenticated-orcid":false,"given":"Nimit N.","family":"Desai","sequence":"first","affiliation":[{"name":"Department of Neurology Medical University of South Carolina  Charleston South Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos","family":"Guerrero","sequence":"additional","affiliation":[{"name":"AdventHealth Medical Group\u2013 Neurology  Altamonte Springs Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maysen","family":"Mesaros","sequence":"additional","affiliation":[{"name":"Department of Neurology Medical University of South Carolina  Charleston South Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah E.","family":"Schmitt","sequence":"additional","affiliation":[{"name":"Department of Neurology Medical University of South Carolina  Charleston South Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zeke","family":"Campbell","sequence":"additional","affiliation":[{"name":"Department of Neurology Medical University of South Carolina  Charleston South Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,10,31]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.150"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181f4d7bf"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2010.02767.x"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2010.02728.x"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000002457"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21625"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.183"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1528-1157.2001.10401.x"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1157.1997.tb01098.x"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2005.47104.x"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000264932.44153.3c"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.12138"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1525-5050(03)00172-0"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0013-9580.2004.39703.x"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/epd2.20157","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T16:40:04Z","timestamp":1710780004000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/epd2.20157"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10,31]]},"references-count":14,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2023,12]]}},"alternative-id":["10.1002\/epd2.20157"],"URL":"https:\/\/doi.org\/10.1002\/epd2.20157","archive":["Portico"],"relation":{},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,10,31]]},"assertion":[{"value":"2023-02-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-08-25","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-10-31","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}