
About Glut1 Deficiency | Glut1 Deficiency Foundation
Glut1 Deficiency is a rare genetic condition that impairs brain metabolism. It is caused by mutations or variants in the SLC2A1 gene, which encodes the glucose transporter protein type …
Glucose Transporter Type 1 Deficiency Syndrome
2002年7月30日 · Glucose transporter type 1 deficiency syndrome (Glut1 DS) usually presents as either classic Glut1 DS (~90% of affected individuals) or, more rarely, non-classic Glut1 DS …
GLUT1 deficiency syndrome - MedlinePlus
GLUT1 deficiency syndrome is a disorder affecting the nervous system that can have a variety of neurological signs and symptoms. Approximately 90 percent of affected individuals have a …
GLUT1 - an overview | ScienceDirect Topics
GLUT1, encoded by the SLC2A1 gene, is one of the most extensively studied of membrane transport proteins. GLUT1 has a high expression as two molecular forms of 55 and 45 kDa in …
The glucose transporter type 1 (Glut1) syndromes - PubMed
The glucose transporter type 1 (Glut1) is the most important energy carrier of the brain across the blood-brain barrier. In the early nineties, the first genetic defect of Glut1 was described and …
Glucose transporter 1 in health and disease - PMC
GLUT1 is an integral membrane hydrophobic protein that comprises of 492 amino acids with a molecular weight of 54 kDa. It helps in the transport of glucose, galactose, mannose, …
Glut1 Deficiency Foundation
2025年3月8日 · Glut1 Deficiency is a rare genetic condition that impairs brain metabolism. Glucose isn't transported properly across the blood brain barrier and into the brain, preventing …
GLUT1 Deficiency Syndrome (SLC2A1) | Epilepsy Foundation
What Is Glucose Transporter Type 1 Deficiency Syndrome (GLUT1) (SLC2A1 Pathogenic Variant)? GLUT1 stands for glucose transporter protein type 1. GLUT1 deficiency is a rare …
GLUT1 deficiency syndrome - NIH Genetic Testing Registry (GTR) …
The phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS) is now known to be a continuum that includes the classic phenotype as well as paroxysmal exercise …
Glut1 deficiency syndrome: New and emerging insights into a ...
The classic Glut1 DS disease phenotype is characterized by a pediatric-onset epileptic encephalopathy that responds poorly to antiepileptic drugs, developmental delay, and a …
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