{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T03:27:54Z","timestamp":1761017274825},"reference-count":24,"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":"<jats:title>ABSTRACT<\/jats:title><jats:p><jats:italic>Aims<\/jats:italic>. In addition to a complex inheritance pattern in genetic generalized epilepsy (GGE) syndromes, some studies have recently identified <jats:italic>SLC2A1<\/jats:italic> variants which lead to glucose transporter type 1 (<jats:italic>GLUT1<\/jats:italic>) defects, in patients diagnosed with GGE. Here, we investigated the possible role of <jats:italic>SLC2A1<\/jats:italic> variants in GGE patients with eyelid myoclonia (EM) which is a rare generalized seizure type associated with drug resistance and cognitive dysfunction.<\/jats:p><jats:p><jats:italic>Methods<\/jats:italic>. After polymerase chain reaction with designed primers, sequencing of all <jats:italic>SLC2A1<\/jats:italic> exons was performed for 25 GGE\u2010EM patients, as well as a control group of 15 GGE patients with absence seizures.<\/jats:p><jats:p><jats:italic>Results<\/jats:italic>. Although various single nucleotide polymorphisms clustered in the ninth exon were detected, no variant was found in the two groups with GGE.<\/jats:p><jats:p><jats:italic>Conclusions<\/jats:italic>. Even though the patient number in this study is small, the data suggest that <jats:italic>SLC2A1<\/jats:italic> variants do not play any causative role in GGE associated with EM.<\/jats:p>","DOI":"10.1684\/epd.2018.0998","type":"journal-article","created":{"date-parts":[[2019,8,2]],"date-time":"2019-08-02T13:24:29Z","timestamp":1564752269000},"page":"396-400","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Investigation of <i>SLC2A1<\/i> gene variants in genetic generalized epilepsy patients with eyelid myoclonia"],"prefix":"10.1002","volume":"20","author":[{"given":"G\u00fcne\u015f","family":"Alt\u0131okka\u2010Uzun","sequence":"first","affiliation":[{"name":"Department of Neurology, Istanbul Faculty of Medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00d6zkan","family":"\u00d6zdemir","sequence":"additional","affiliation":[{"name":"Department of Genetics, Aziz Sancar Institute of 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