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


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 (Journal Indexed in ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 83 Issue: 3
  • Publication Date: 2020
  • Doi Number: 10.26650/iuitfd.2019.0064
  • Title of Journal : JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI
  • Page Numbers: pp.177-183

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.