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 GeneticVariation group BEFREE A part from this classic phenotype, clinical conditions associated with a deficiency of GLUT1 are highly variable and several atypical variants have been described; in particular, patients with movement disorders, but without seizures, with paroxysmal exertion-induced dyskinesia, have been reported. 21962875 2012
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 GeneticVariation group BEFREE Familial paroxysmal exercise-induced dyskinesia (PED) is a rare movement disorder that is mostly caused by mutations in the solute carrier family 2, member 1 (SLC2A1) gene and inherited in an autosomal dominant manner. 25099510 2014
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 GeneticVariation group BEFREE Mutations in SLC2A1 were detected in 5 (10%) of 50 patients with absence epilepsy, and in one (2.7%) of 37 patient with unselected epilepsies, ID, and/or various movement disorders. 26537434 2015
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 GeneticVariation group BEFREE Future research should focus on subpopulations of focal epilepsy with lower age of seizure onset particularly with co-existent movement disorders in which GLUT1 mutations may play a more important role. 28419980 2017
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 GeneticVariation group BEFREE The authors describe two sporadic children with pure and complex hereditary spastic paraplegia (HSP) without paroxysmal non-epileptic movement disorders harboring heterozygous de novo SLC2A1 pathogenic variants. 30616884 2019
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 Biomarker group BEFREE No significant differences were found in terms of type of movement disorder, whilst Paroxysmal Exertion-induced Dyskinesia (PED) is confirmed to be the most characteristic movement disorder type in GLUT1DS. 25564316 2015
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 Biomarker group HPO
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 Biomarker group BEFREE Dysfunction of the cerebral glucose transporter GLUT1 (encoded by SLC2A1) is known to result in epilepsy, intellectual disability (ID), and movement disorder. 28434495 2017
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 Biomarker group BEFREE GLUT1-DS is characterized by movement disorders, including paroxysmal exercise-induced dystonia (PED), as well as seizures, mental retardation and hypoglycorrhachia. 21229316 2011
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 Biomarker group BEFREE To describe a characteristic paroxysmal eye-head movement disorder that occurs in infants with Glut1 deficiency syndrome (Glut1 DS). 28341645 2017
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 The role of SLC2A1 in early onset and childhood absence epilepsies. 23306390 2013
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 CausalMutation group CLINVAR Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome. 21791420 2011
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 CausalMutation group CLINVAR Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification. 24963779 2014
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 CausalMutation group CLINVAR Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. 21555602 2011
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 CausalMutation group CLINVAR Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. 20129935 2010
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 CausalMutation group CLINVAR Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS). 23443458 2013
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 CausalMutation group CLINVAR Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect. 21832227 2011
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 CausalMutation group CLINVAR An infant with pseudohyperkalemia, hemolysis, and seizures: cation-leaky GLUT1-deficiency syndrome due to a SLC2A1 mutation. 22492876 2012
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 CausalMutation group CLINVAR Glut1 deficiency syndrome: Absence epilepsy and La Soupe du Jour. 26336901 2016
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 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