GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
|
0.400 |
Biomarker
|
disease |
CLINGEN |
Gene therapy for a mouse model of glucose transporter-1 deficiency syndrome.
|
28119822 |
2017 |
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Genomic diagnosis for children with intellectual disability and/or developmental delay.
|
28554332 |
2017 |
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Glucose transport 1 deficiency presenting as infantile spasms with a mutation identified in exon 9 of SLC2A1.
|
28018440 |
2016 |
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Paroxysmal Exercise-induced Dyskinesias Caused by GLUT1 Deficiency Syndrome.
|
27351150 |
2016 |
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome.
|
26615598 |
2016 |
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan.
|
25487684 |
2015 |
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
|
0.400 |
Biomarker
|
disease |
CLINGEN |
From splitting GLUT1 deficiency syndromes to overlapping phenotypes.
|
26193382 |
2015 |
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
The clinical and genetic heterogeneity of paroxysmal dyskinesias.
|
26598494 |
2015 |
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
From splitting GLUT1 deficiency syndromes to overlapping phenotypes.
|
26193382 |
2015 |
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
From splitting GLUT1 deficiency syndromes to overlapping phenotypes.
|
26193382 |
2015 |
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan.
|
25487684 |
2015 |
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
The many faces of Glut1 deficiency syndrome.
|
23340081 |
2014 |
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Reversible white matter lesions during ketogenic diet therapy in glucose transporter 1 deficiency syndrome.
|
24080273 |
2013 |
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Good outcome in patients with early dietary treatment of GLUT-1 deficiency syndrome: results from a retrospective Norwegian study.
|
23448551 |
2013 |
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency.
|
23106342 |
2012 |
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome.
|
22976442 |
2012 |
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
Allelic variations of glut-1 deficiency syndrome: the chinese experience.
|
22704013 |
2012 |
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Glucose transporter 1 deficiency in the idiopathic generalized epilepsies.
|
23280796 |
2012 |
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome.
|
22976442 |
2012 |
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Allelic variations of glut-1 deficiency syndrome: the chinese experience.
|
22704013 |
2012 |
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect.
|
21832227 |
2011 |
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy.
|
21555602 |
2011 |
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy.
|
21555602 |
2011 |
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
"""Benign"" myoclonic epilepsy of infancy as the initial presentation of glucose transporter-1 deficiency."
|
21865127 |
2011 |
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
Glut1 deficiency: inheritance pattern determined by haploinsufficiency.
|
20687207 |
2010 |