{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,25]],"date-time":"2025-10-25T13:58:20Z","timestamp":1761400700559},"reference-count":9,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2018,11,21]],"date-time":"2018-11-21T00:00:00Z","timestamp":1542758400000},"content-version":"vor","delay-in-days":51,"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":[[2018,10]]},"abstract":"ABSTRACT<\/jats:title>STX1B<\/jats:italic> is a gene that encodes syntaxin\u20101B. STX1B<\/jats:italic> mutations have recently been implicated in fever\u2010associated epilepsy syndromes. However, these have not previously been reported in sleep\u2010related hypermotor epilepsy. A 20\u2010year\u2010old man with a strong family history of epilepsy was investigated in our epilepsy monitoring unit due to uncontrolled epilepsy, compatible with sleep\u2010related hypermotor epilepsy. Electroclinical and polygraphic physiological recordings revealed left frontal epileptiform discharges and prominent peri\u2010ictal hypotension. Normal MRI using an epilepsy protocol prompted a search for a genetic epilepsy, which revealed a likely pathogenic mutation in the STX1B<\/jats:italic> gene. The patient remained seizure\u2010free after treatment optimization with carbamazepine. This case suggests that a sleep\u2010related hypermotor epilepsy phenotype can be associated with syntaxin\u20101B gene mutation, and testing for this gene should be considered in such patients. Furthermore, it may also be concluded that autonomic dysfunction, characterized by peri\u2010ictal hypotension, can also occur in this discorder. [Published with video sequences on<\/jats:italic> www.epilepticdisorders.com<\/jats:ext-link>]<\/jats:p>","DOI":"10.1684\/epd.2018.0996","type":"journal-article","created":{"date-parts":[[2019,8,2]],"date-time":"2019-08-02T13:24:29Z","timestamp":1564752269000},"page":"413-417","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Sleep\u2010related hypermotor epilepsy and peri\u2010ictal hypotension in a patient with syntaxin\u20101B mutation"],"prefix":"10.1002","volume":"20","author":[{"given":"Joao","family":"Peres","sequence":"first","affiliation":[{"name":"Neurology Department, Hospital Prof. Doutor Fernando Fonseca, Amadora, Portugal"},{"name":"Epilepsy Center, University Hospitals Cleveland Medical Centre, Cleveland, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francisco","family":"Antunes","sequence":"additional","affiliation":[{"name":"Epilepsy Center, University Hospitals Cleveland Medical Centre, Cleveland, USA"},{"name":"Neurology Department, Hospital Garcia de Orta, Almada, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bilal","family":"Zonjy","sequence":"additional","affiliation":[{"name":"Neurology Department, Hospital Garcia de Orta, Almada, Portugal"},{"name":"Center for SUDEP Research"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna L.","family":"Mitchell","sequence":"additional","affiliation":[{"name":"Center for Human Genetics, University Hospitals Case Medical Center and the Department of Pediatrics, Rainbow Babies and Children's Hospital, Cleveland, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samden D.","family":"Lhatoo","sequence":"additional","affiliation":[{"name":"Epilepsy Center, University Hospitals Cleveland Medical Centre, Cleveland, USA"},{"name":"Center for SUDEP Research"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,11,21]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12251"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2017.00210"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2016.05.013"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2017.3344"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1157.1998.tb01452.x"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0090004"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3130"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000002666"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2016.11.030"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1684\/epd.2018.0996","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T16:05:52Z","timestamp":1710777952000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1684\/epd.2018.0996"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,10]]},"references-count":9,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2018,10]]}},"alternative-id":["10.1684\/epd.2018.0996"],"URL":"https:\/\/doi.org\/10.1684\/epd.2018.0996","archive":["Portico"],"relation":{},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,10]]},"assertion":[{"value":"2017-10-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-06-09","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-11-21","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}