Seizures
|
0.700 |
Biomarker
|
phenotype |
BEFREE |
It has been hypothesized that mTOR and GLUT‑1 may additionally be involved in seizures elicited by stroke.
|
29484389 |
2018 |
Seizures
|
0.700 |
Biomarker
|
phenotype |
BEFREE |
GLUT-1 deficiency presenting with seizures and reversible leukoencephalopathy on MRI imaging.
|
30115503 |
2018 |
Seizures
|
0.700 |
GeneticVariation
|
phenotype |
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 |
Seizures
|
0.700 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia.
|
27725288 |
2016 |
Seizures
|
0.700 |
CausalMutation
|
phenotype |
CLINVAR |
Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan.
|
25487684 |
2015 |
Seizures
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
Clinical reasoning: novel GLUT1-DS mutation: refractory seizures and ataxia.
|
25870456 |
2015 |
Seizures
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
Two cases without SLC2A1 mutations were seizure-free at every follow-up point recorded.
|
25914049 |
2015 |
Seizures
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
Our study underscores that focal epilepsy can be caused by SLC2A1 mutations or that focal seizures may present the main type of seizures.
|
25022942 |
2014 |
Seizures
|
0.700 |
CausalMutation
|
phenotype |
CLINVAR |
Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome.
|
22976442 |
2012 |
Seizures
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
Glucose transporter type 1 deficiency syndrome (Glut-1DS) is caused by autosomal dominant haplodeficiency or autosomal recessive with homozygous mutation of the glucose transporter 1 (SLC2A1) gene and is characterized by severe seizures, developmental delay, ataxia and acquired microcephaly.
|
22814174 |
2012 |
Seizures
|
0.700 |
GeneticVariation
|
phenotype |
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 |
Seizures
|
0.700 |
Biomarker
|
phenotype |
BEFREE |
Here a remarkable immediate and effective seizure control and a dose-independent unsuccessful steroid withdrawal indicated a potential GLUT1 sensitivity to steroids.
|
22976442 |
2012 |
Seizures
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
An infant with pseudohyperkalemia, hemolysis, and seizures: cation-leaky GLUT1-deficiency syndrome due to a SLC2A1 mutation.
|
22492876 |
2012 |
Seizures
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
Our purpose is (1) to describe epilepsy phenotypes in a large Glut 1 DS cohort, to facilitate diagnosis; and (2) to describe cases in which non-KD agents achieved seizure freedom (SF), highlighting potential adjunctive treatments.
|
22812641 |
2012 |
Seizures
|
0.700 |
CausalMutation
|
phenotype |
CLINVAR |
Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy.
|
21555602 |
2011 |
Seizures
|
0.700 |
Biomarker
|
phenotype |
BEFREE |
We analyzed the SLC2A1 gene in 12 Japanese Glut1-DS patients who were diagnosed by characteristic clinical symptoms and hypoglycorrhachia as follows: all patients had infantile-onset seizures and mild to severe developmental delay, and ataxia was detected in 11 patients.
|
22011817 |
2011 |
Seizures
|
0.700 |
Biomarker
|
phenotype |
BEFREE |
GLUT1-DS is characterized by movement disorders, including paroxysmal exercise-induced dystonia (PED), as well as seizures, mental retardation and hypoglycorrhachia.
|
21229316 |
2011 |
Seizures
|
0.700 |
Biomarker
|
phenotype |
BEFREE |
Glucose transporter type I deficiency syndrome (GLUT-1 DS) is an inborn error of glucose transport characterized by seizures, developmental delay, spasticity, acquired microcephaly and ataxia.
|
19515520 |
2010 |
Seizures
|
0.700 |
Biomarker
|
phenotype |
BEFREE |
Mutants for neuronal nicotinic acetylcholine receptors, Glut-1 deficiency and aquaporin channels highlight additional seizure phenotypes in mice.
|
17351486 |
2007 |
Seizures
|
0.700 |
Biomarker
|
phenotype |
BEFREE |
In 2002, we identified a heterozygous missense mutation substituting glycine at residue 75 for tryptophan in a 10-year-old girl with intractable seizures and low glucose concentrations in the cerebrospinal fluid indicative of GLUT1 deficiency.
|
16171377 |
2005 |
Seizures
|
0.700 |
Biomarker
|
phenotype |
CTD_human |
Autosomal dominant glut-1 deficiency syndrome and familial epilepsy.
|
11603379 |
2001 |
Seizures
|
0.700 |
Biomarker
|
phenotype |
CTD_human |
Fifteen children presenting with infantile seizures, acquired microcephaly, and developmental delay were found to have novel heterozygous mutations in the GLUT1 (SLC2A1).
|
10980529 |
2000 |
Seizures
|
0.700 |
Biomarker
|
phenotype |
CTD_human |
GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier.
|
9462754 |
1998 |
Seizures
|
0.700 |
Biomarker
|
phenotype |
HPO |
|
|
|
Seizures
|
0.700 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|