DYSTONIA 18 (disorder)
|
0.750 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
DYSTONIA 18 (disorder)
|
0.750 |
Biomarker
|
disease |
CTD_human |
|
|
|
DYSTONIA 18 (disorder)
|
0.750 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
DYSTONIA 18 (disorder)
|
0.750 |
Biomarker
|
disease |
BEFREE |
GLUT1-DS is characterized by movement disorders, including paroxysmal exercise-induced dystonia (PED), as well as seizures, mental retardation and hypoglycorrhachia.
|
21229316 |
2011 |
DYSTONIA 18 (disorder)
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia.
|
27725288 |
2016 |
DYSTONIA 18 (disorder)
|
0.750 |
GeneticVariation
|
disease |
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 |
DYSTONIA 18 (disorder)
|
0.750 |
Biomarker
|
disease |
BEFREE |
A special form of transient movement disorders, the paroxysmal exertion-induced dyskinesia (PED), absence epilepsies particularly with an early onset absence epilepsy (EOAE) and childhood absence epilepsy (CAE), myoclonic astatic epilepsy (MAE), episodic choreoathetosis and spasticity (CSE), and focal epilepsy can be based on a Glut1 defect.
|
30076047 |
2019 |
DYSTONIA 18 (disorder)
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency.
|
20574033 |
2010 |
DYSTONIA 18 (disorder)
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
DYSTONIA 18 (disorder)
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
Clinical utility of genetic testing in pediatric drug-resistant epilepsy: a pilot study.
|
25108116 |
2014 |
DYSTONIA 18 (disorder)
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.
|
19798636 |
2009 |
DYSTONIA 18 (disorder)
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency.
|
20830593 |
2011 |
DYSTONIA 18 (disorder)
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
|
20129935 |
2010 |
DYSTONIA 18 (disorder)
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
GLUT-1 deficiency without epilepsy--an exceptional case.
|
14605501 |
2003 |
DYSTONIA 18 (disorder)
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias.
|
19630075 |
2009 |
DYSTONIA 18 (disorder)
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
Mild adolescent/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency.
|
21204808 |
2010 |
DYSTONIA 18 (disorder)
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome.
|
10980529 |
2000 |
DYSTONIA 18 (disorder)
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome.
|
10980529 |
2000 |
DYSTONIA 18 (disorder)
|
0.750 |
GeneticVariation
|
disease |
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 |
DYSTONIA 18 (disorder)
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect.
|
21832227 |
2011 |
DYSTONIA 18 (disorder)
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.
|
18577546 |
2008 |
DYSTONIA 18 (disorder)
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
Paroxysmal exercise-induced dyskinesia, writer's cramp, migraine with aura and absence epilepsy in twin brothers with a novel SLC2A1 missense mutation.
|
20621801 |
2010 |
DYSTONIA 18 (disorder)
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome.
|
21791420 |
2011 |
DYSTONIA 18 (disorder)
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
We screened 4 additional families, in which PED is combined with epilepsy, developmental delay, or migraine, but not with hemolysis or echinocytosis, and identified 2 additional GLUT1 mutations (A275T, G314S) that decreased glucose transport but did not affect cation permeability.
|
18451999 |
2008 |
DYSTONIA 18 (disorder)
|
0.750 |
Biomarker
|
disease |
BEFREE |
We summarize recently discovered genes and loci, including the 1) detection of two primary dystonia genes (DYT6, DYT16), 2) identification of the DYT17 locus, 3) association of a dystonia/dyskinesia phenotype with a gene previously linked to GLUT1 (glucose transporter of the blood-brain barrier) deficiency syndrome (DYT18), 4) designation of paroxysmal kinesigenic and nonkinesigenic dyskinesia as DYT19 and DYT20, and 5) redefinition of DYT14 as DYT5.
|
20425035 |
2010 |