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 |
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 |
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 |
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 |
Movement Disorders
|
0.200 |
CausalMutation
|
group |
CLINVAR |
Glut1 deficiency syndrome: Absence epilepsy and La Soupe du Jour.
|
26336901 |
2016 |
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 |
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 |
Movement Disorders
|
0.200 |
CausalMutation
|
group |
CLINVAR |
Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan.
|
25487684 |
2015 |
Movement Disorders
|
0.200 |
CausalMutation
|
group |
CLINVAR |
Mutational and functional analysis of Glucose transporter I deficiency syndrome.
|
26304067 |
2015 |
Movement Disorders
|
0.200 |
CausalMutation
|
group |
CLINVAR |
The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.
|
26537434 |
2015 |
Movement Disorders
|
0.200 |
CausalMutation
|
group |
CLINVAR |
From splitting GLUT1 deficiency syndromes to overlapping phenotypes.
|
26193382 |
2015 |
Movement Disorders
|
0.200 |
CausalMutation
|
group |
CLINVAR |
The clinical and genetic heterogeneity of paroxysmal dyskinesias.
|
26598494 |
2015 |
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 |
Movement Disorders
|
0.200 |
CausalMutation
|
group |
CLINVAR |
Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification.
|
24963779 |
2014 |
Movement Disorders
|
0.200 |
CausalMutation
|
group |
CLINVAR |
The role of SLC2A1 in early onset and childhood absence epilepsies.
|
23306390 |
2013 |
Movement Disorders
|
0.200 |
CausalMutation
|
group |
CLINVAR |
Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS).
|
23443458 |
2013 |
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 |
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 |
Movement Disorders
|
0.200 |
CausalMutation
|
group |
CLINVAR |
Glucose transporter 1 deficiency in the idiopathic generalized epilepsies.
|
23280796 |
2012 |
Movement Disorders
|
0.200 |
CausalMutation
|
group |
CLINVAR |
Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome.
|
22976442 |
2012 |
Movement Disorders
|
0.200 |
CausalMutation
|
group |
CLINVAR |
Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome.
|
21791420 |
2011 |
Movement Disorders
|
0.200 |
CausalMutation
|
group |
CLINVAR |
Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy.
|
21555602 |
2011 |
Movement Disorders
|
0.200 |
CausalMutation
|
group |
CLINVAR |
Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect.
|
21832227 |
2011 |
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 |
Movement Disorders
|
0.200 |
CausalMutation
|
group |
CLINVAR |
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
|
20129935 |
2010 |