Epileptic Disorders
MENUInvestigation of SLC2A1 gene variants in genetic generalized epilepsy patients with eyelid myoclonia Volume 20, issue 5, October 2018
Tables
1 Department of Neurology, Istanbul Faculty of Medicine
2 Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey
* Correspondence: Güneş Altıokka Uzun
Istanbul University,
Istanbul Faculty of Medicine,
Department of Neurology,
Millet cad Capa 34390,
Istanbul, Turkey
- Key words: genetic generalized epilepsy, eyelid myoclonia, SLC2A1 variant, GLUT1
- DOI : 10.1684/epd.2018.0998
- Page(s) : 396-400
- Published in: 2018
In addition to a complex inheritance pattern in genetic generalized epilepsy (GGE) syndromes, some studies have recently identified SLC2A1 variants which lead to glucose transporter type 1 (GLUT1) defects, in patients diagnosed with GGE. Here, we investigated the possible role of SLC2A1 variants in GGE patients with eyelid myoclonia (EM) which is a rare generalized seizure type associated with drug resistance and cognitive dysfunction.