{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T03:28:04Z","timestamp":1773804484382,"version":"3.50.1"},"reference-count":11,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2017,10,31]],"date-time":"2017-10-31T00:00:00Z","timestamp":1509408000000},"content-version":"vor","delay-in-days":60,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2017,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>SYNGAP1<\/jats:italic> gene mutation has been associated with epilepsy which is often drug resistant, with seizure types including eyelid myoclonia. However, detailed descriptions, including ictal video\u2010EEG, have not been reported. We report the case of a 4\u2010year\u2010old boy who developed recurrent epileptic eyelid twitching at 1 year and 5 months of age. Seizures gradually increased in frequency to more than 50 times per day and manifested with upward eye deviation, motion arrest, loss of consciousness, and eyelid twitching lasting for five seconds. Ictal EEG showed rhythmic, generalized slow or spike\u2010and\u2010wave complex activity with posterior predominance. Moderate psychomotor developmental delay and unsteady gait were also noted. Neuroimaging results were normal. Seizures were refractory to carbamazepine and levetiracetam but were reduced in frequency by ethosuximide and lamotrigine administration. Genetic analysis identified a c.3583\u20106 G&gt;A mutation in the <jats:italic>SYNGAP1<\/jats:italic> gene. <jats:italic>SYNGAP1<\/jats:italic> gene analysis should be considered for intellectually disabled patients with early\u2010onset drug resistant eyelid twitching and photosensitivity. Further clinical research on <jats:italic>SYNGAP1<\/jats:italic> function may be necessary to treat epilepsy of this aetiology. [<jats:italic>Published with video sequence on<\/jats:italic> <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"http:\/\/www.epilepticdisorders.com\">www.epilepticdisorders.com<\/jats:ext-link>]<\/jats:p>","DOI":"10.1684\/epd.2017.0922","type":"journal-article","created":{"date-parts":[[2019,8,2]],"date-time":"2019-08-02T13:24:29Z","timestamp":1564752269000},"page":"339-344","source":"Crossref","is-referenced-by-count":13,"title":["Pharmacoresistant epileptic eyelid twitching in a child with a mutation in <i>SYNGAP1<\/i>"],"prefix":"10.1002","volume":"19","author":[{"given":"Tetsuya","family":"Okazaki","sequence":"first","affiliation":[{"name":"Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine Tottori University Yonago"},{"name":"Division of Clinical Genetics Tottori University Hospital Yonago"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshiaki","family":"Saito","sequence":"additional","affiliation":[{"name":"Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine Tottori University Yonago"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rika","family":"Hiraiwa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Eastern Shimane Rehabilitation Hospital Matsue"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shinji","family":"Saitoh","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Neonatology Nagoya City University Graduate School of Medical Sciences Nagoya"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masachika","family":"Kai","sequence":"additional","affiliation":[{"name":"Division of Technical Department Tottori University Yonago"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kaori","family":"Adachi","sequence":"additional","affiliation":[{"name":"Division of Functional Genomics, Research Center for Bioscience and Technology Tottori University Yonago Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoko","family":"Nishimura","sequence":"additional","affiliation":[{"name":"Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine Tottori University Yonago"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eiji","family":"Nanba","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics Tottori University Hospital Yonago"},{"name":"Division of Functional Genomics, Research Center for Bioscience and Technology Tottori University Yonago Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshihiro","family":"Maegaki","sequence":"additional","affiliation":[{"name":"Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine Tottori University Yonago"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,10,31]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22248"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000131909.74506.5F"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2009.04.004"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2015.09.022"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0805392"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.23-04-01119.2003"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103451"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2005.02.011"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37189"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102554"},{"key":"e_1_2_6_12_1","first-page":"28","article-title":"mutation in focal and generalized epilepsy: a literature overview and a case report with special aspects of the EEG","volume":"46","author":"von St\u00fclpnagel C.","year":"2015","journal-title":"Neuropediatrics"}],"container-title":["Epileptic 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