Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
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
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.700 Biomarker phenotype BEFREE GLUT-1 deficiency presenting with seizures and reversible leukoencephalopathy on MRI imaging. 30115503 2018
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
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
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
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
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.700 CausalMutation phenotype CLINVAR Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan. 25487684 2015
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.700 GeneticVariation phenotype BEFREE Clinical reasoning: novel GLUT1-DS mutation: refractory seizures and ataxia. 25870456 2015
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.700 GeneticVariation phenotype BEFREE Two cases without SLC2A1 mutations were seizure-free at every follow-up point recorded. 25914049 2015
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
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
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.700 CausalMutation phenotype CLINVAR Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome. 22976442 2012
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
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
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
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
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
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
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.700 GeneticVariation phenotype BEFREE An infant with pseudohyperkalemia, hemolysis, and seizures: cation-leaky GLUT1-deficiency syndrome due to a SLC2A1 mutation. 22492876 2012
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
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
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.700 CausalMutation phenotype CLINVAR Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. 21555602 2011
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
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
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
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
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
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
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
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
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
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
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.700 Biomarker phenotype CTD_human Autosomal dominant glut-1 deficiency syndrome and familial epilepsy. 11603379 2001
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
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
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.700 Biomarker phenotype CTD_human GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. 9462754 1998
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.700 Biomarker phenotype HPO
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.700 GeneticVariation phenotype CLINVAR