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

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Ornek Erguzeloglu C., KARA B., Karacan I., Ozdemir O., Kesim Y., Bebek N., ...More

JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI, vol.83, no.3, pp.177-183, 2020 (ESCI)

• Publication Type: Article / Article
• Volume: 83 Issue: 3
• Publication Date: 2020
• Doi Number: 10.26650/iuitfd.2019.0064
• Journal Name: JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI
• Journal Indexes: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
• Page Numbers: pp.177-183
• Istanbul University Affiliated: Yes

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.