Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay
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GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrierParoxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.Protein interactions with the glucose transporter binding protein GLUT1CBP that provide a link between GLUT1 and the cytoskeletonEpileptic encephalopathies: new genes and new pathwaysHomozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystoniaUnderstanding Genotypes and Phenotypes in Epileptic EncephalopathiesGlucose Transporter Type I Deficiency (G1D) at 25 (1990-2015): Presumptions, Facts, and the Lives of Persons With This Rare DiseaseGlucose transporter 1 deficiency in the idiopathic generalized epilepsiesGLUT1-deficiency: barbiturates potentiate haploinsufficiency in vitroA potential role for glucose transporters in the evolution of human brain sizeGlut1 deficiency (G1D): epilepsy and metabolic dysfunction in a mouse model of the most common human phenotype.GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak.Neuronal glucose transporter isoform 3 deficient mice demonstrate features of autism spectrum disordersFunctional consequences of the autosomal dominant G272A mutation in the human GLUT1 gene.Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein.Paroxysmal eye-head movements in Glut1 deficiency syndromeValue of lumbar puncture in the diagnosis of genetic metabolic encephalopathies.Mouse models of neurological disorders: a view from the blood-brain barrier.Murine Glut-1 transporter haploinsufficiency: postnatal deceleration of brain weight and reactive astrocytosis.Treatment of paroxysmal dyskinesias.Predicting the three-dimensional structure of the human facilitative glucose transporter glut1 by a novel evolutionary homology strategy: insights on the molecular mechanism of substrate migration, and binding sites for glucose and inhibitory molecuThe blood-brain barrier in health and disease.Adolescents with clinical type 1 diabetes display reduced red blood cell glucose transporter isoform 1 (GLUT1).Hypoxic-ischemic brain injury exacerbates neuronal apoptosis and precipitates spontaneous seizures in glucose transporter isoform 3 heterozygous null mice.The hidden genetics of epilepsy-a clinically important new paradigm.Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency.Ovariectomy induces a shift in fuel availability and metabolism in the hippocampus of the female transgenic model of familial Alzheimer's.Alterations in function and expression of ABC transporters at blood-brain barrier under diabetes and the clinical significances.Brain glucose transporter (Glut3) haploinsufficiency does not impair mouse brain glucose uptake.Focal abnormalities detected by 18FDG PET in epileptic encephalopathies.The blood-brain barrier.PET/CT imaging reveals unrivaled placental avidity for glucose compared to other tissues.The ketogenic diet for the treatment of epilepsy: a challenge for nutritional neuroscientists.Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome.Genetic testing in epilepsy: what should you be doing?Triheptanoin for glucose transporter type I deficiency (G1D): modulation of human ictogenesis, cerebral metabolic rate, and cognitive indices by a food supplementTreatment strategies for myoclonic seizures and epilepsy syndromes with myoclonic seizures.Facilitative glucose transporters: regulatory mechanisms and dysregulation in diabetesImplications of glucose transporter protein type 1 (GLUT1)-haplodeficiency in embryonic stem cells for their survival in response to hypoxic stress.Evaluation of the Effects of Charged Amino Acids on Uncontrolled Seizures.
P2860
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P2860
Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay
description
1991 nî lūn-bûn
@nan
1991 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Defective glucose transport ac ...... zures, and developmental delay
@ast
Defective glucose transport ac ...... zures, and developmental delay
@en
Defective glucose transport ac ...... zures, and developmental delay
@nl
type
label
Defective glucose transport ac ...... zures, and developmental delay
@ast
Defective glucose transport ac ...... zures, and developmental delay
@en
Defective glucose transport ac ...... zures, and developmental delay
@nl
prefLabel
Defective glucose transport ac ...... zures, and developmental delay
@ast
Defective glucose transport ac ...... zures, and developmental delay
@en
Defective glucose transport ac ...... zures, and developmental delay
@nl
P2093
P921
P3181
P1476
Defective glucose transport ac ...... zures, and developmental delay
@en
P2093
D C De Vivo
R A Behmand
R I Jacobson
R R Trifiletti
P3181
P356
10.1056/NEJM199109053251006
P407
P577
1991-09-05T00:00:00Z