SLC2A1, solute carrier family 2 member 1, 6513

N. diseases: 687; N. variants: 76
Disease: Movement Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 CausalMutation group CLINVAR Glut1 deficiency: inheritance pattern determined by haploinsufficiency. 20687207 2010
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 Biomarker group BEFREE Gait disturbances and movement disorders are frequent in patients with Glut-1 deficiency and are signs of chronic and intermittent pyramidal, cerebellar and extrapyramidal circuit dysfunction. 20063428 2010
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 CausalMutation group CLINVAR Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. 19798636 2009
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 CausalMutation group CLINVAR Autosomal recessive inheritance of GLUT1 deficiency syndrome. 20221955 2009
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 CausalMutation group CLINVAR Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. 18577546 2008
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 Biomarker group BEFREE This case broadens the phenotype of GLUT1 deficiency and illustrates the importance of cerebrospinal fluid (CSF) evaluation in detecting potentially treatable conditions in children with undiagnosed movement disorders. 16149086 2006
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 CausalMutation group CLINVAR Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome. 12752470 2003
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 CausalMutation group CLINVAR A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study. 10766892 2000
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 CausalMutation group CLINVAR Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. 1714544 1991
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 Biomarker group HPO