JLE

Epileptic Disorders

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Investigation of SLC2A1 gene variants in genetic generalized epilepsy patients with eyelid myoclonia Volume 20, issue 5, October 2018

Tables

Authors
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

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.