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., ...Daha Fazla

JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI, cilt.83, sa.3, ss.177-183, 2020 (ESCI) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 83 Sayı: 3
  • Basım Tarihi: 2020
  • Doi Numarası: 10.26650/iuitfd.2019.0064
  • Dergi Adı: JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.177-183
  • Anahtar Kelimeler: Glucose transporter-1 deficiency syndrome (GLUT1-DS), SLC2A1, de novo variations, CNV analysis, SNP array
  • Kocaeli Üniversitesi Adresli: Evet

Özet

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.