SCREENING SLC2A1 GENE FOR SEQUENCE AND COPY NUMBER VARIATIONS ASSOCIATED WITH GLUT-1 DEFICIENCY SYNDROME

Date
2020
Author
Kesim, Yesim
Ugur Iseri, Sibel Aylin
Ozdemir, Ozkan
Bebek, Nerses
Ozbek, Ugur
Ornek Erguzeloglu, Cemre
KARA, BÜLENT
Karacan, Ilker
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Abstract
Objective: Glucose transporter-1 deficiency syndrome (GLUT1- DS) is defined as a metabolic encephalopathy that is associated with heterozygous and usually de novo pathogenic variations in the SLC2A1 (solute carrier family2 member1) gene.
URI
http://hdl.handle.net/20.500.12627/4861
https://doi.org/10.26650/iuitfd.2019.0064
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