GLUT1DS. Disease-causing variants in SLC2A1 are associated with a rare genetic neurometabolic condition known as GLUT1 Deficiency Syndrome (GLUT1DS). While GLUT1DS is typically diagnosed through molecular genetic testing, the diagnostic strategy in some cases includes lumbar puncture to measure cerebrospinal fluid (CSF) glucose to confirm the diagnosis. In a recent study, Mochel and collaborators performed a multicenter validation study of a blood-based biomarker for GLUT1DS. Here is a brief review on their publication and the utility of molecular biomarkers in GLUT1DS and genetic epilepsies more broadly.
Category Archives: SCL2A1
The glucose transport bottleneck – This is what you need to know about SLC2A1 in 2015
GLUT1DS. The next gene in our list of Epilepsiome genes is SLC2A1, coding for the major glucose transporter in brain and erythrocytes. Initially thought to be exclusively associated with a very rare and severe epileptic encephalopathy, recent studies have suggested that SLC2A1 mutations can also be identified in patients with early-onset generalized epilepsies and familial epilepsies. Continue reading
