Investigation of SLC2A1 gene variants in genetic generalized epilepsy patients with eyelid myoclonia

Abstract

Aims. 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. Methods. After polymerase chain reaction with designed primers, sequencing of all SLC2A1 exons was performed for 25 GGE-EM patients, as well as a control group of 15 GGE patients with absence seizures. Results. Although various single nucleotide polymorphisms clustered in the ninth exon were detected, no variant was found in the two groups with GGE. Conclusions. Even though the patient number in this study is small, the data suggest that SLC2A1 variants do not play any causative role in GGE associated with EM.