rs1553156053
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Glut1 deficiency syndrome: Absence epilepsy and La Soupe du Jour.
|
26336901 |
2016 |
rs1553156053
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutational and functional analysis of Glucose transporter I deficiency syndrome.
|
26304067 |
2015 |
rs1553156053
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The clinical and genetic heterogeneity of paroxysmal dyskinesias.
|
26598494 |
2015 |
rs1553156053
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.
|
26537434 |
2015 |
rs1553156053
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
From splitting GLUT1 deficiency syndromes to overlapping phenotypes.
|
26193382 |
2015 |
rs1553156053
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification.
|
24963779 |
2014 |
rs1553156053
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The role of SLC2A1 in early onset and childhood absence epilepsies.
|
23306390 |
2013 |
rs1553156053
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS).
|
23443458 |
2013 |
rs1553156053
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Glucose transporter 1 deficiency in the idiopathic generalized epilepsies.
|
23280796 |
2012 |
rs1553156053
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
An infant with pseudohyperkalemia, hemolysis, and seizures: cation-leaky GLUT1-deficiency syndrome due to a SLC2A1 mutation.
|
22492876 |
2012 |
rs1553156053
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy.
|
21555602 |
2011 |
rs1553156053
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome.
|
21791420 |
2011 |
rs1553156053
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect.
|
21832227 |
2011 |
rs1553156053
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
|
20129935 |
2010 |
rs1553156053
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Glut1 deficiency: inheritance pattern determined by haploinsufficiency.
|
20687207 |
2010 |
rs1553156053
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Autosomal recessive inheritance of GLUT1 deficiency syndrome.
|
20221955 |
2009 |
rs1553156053
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.
|
19798636 |
2009 |
rs1553156053
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.
|
18577546 |
2008 |
rs1553156053
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome.
|
12752470 |
2003 |
rs1553156053
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study.
|
10766892 |
2000 |
rs1553156053
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay.
|
1714544 |
1991 |