Article
Three novel SLC2A1 mutations in Bulgarian patients with different forms of genetic generalized epilepsy reflecting the clinical and genetic diversity of GLUT1-deficiency syndrome.
Seizure - 1 Jan 2018
Ivanova Nevyana, Peycheva Valentina, Kamenarova Kunka, Kancheva Dalia, Tsekova Irina, Aleksandrova Iliana, Hristova Dimitrina, Litvinenko Ivan, Todorova Diana, Sarailieva Gergana, Dimova Petya, Tomov Veselin, Bozhinova Veneta, Mitev Vanio, Kaneva Radka, Jordanova Albena
Abstract excerpt
PURPOSE: GLUT1-deficiency syndrome (GLUT1-DS) is a metabolic brain disorder with a great clinical heterogeneity underlined by various mutations in the SLC2A1 gene which make the clinical and genetic diagnosis complicated. The purpose of our study is to investigate the genetic defects affecting the SLC2A1 gene in a group of Bulgarian patients with genetic generalized epilepsy (GGE), and to bring new insights into...
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