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Effects of anticonvulsants on GLUT1-mediated glucose transport in GLUT1 deficiency syndrome in vitro
European Journal of Pediatrics, 2003Facilitative type-1 glucose transporter (GLUT1) deficiency syndrome is caused by a defect of glucose transport into brain, resulting in an epileptic encephalopathy. Seizures respond effectively to a ketogenic diet, but a subgroup of patients require add-on anticonvulsant therapy or do not tolerate the diet.
Klepper, Jörg +3 more
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Ultrastructure of Human Erythrocyte GLUT1
Biochemistry, 2006This study was undertaken to examine GLUT1 quaternary structure. Independent but complementary methodologies were used to investigate the influence of membrane-solubilizing detergents on GLUT1/lipid/detergent micelle hydrodynamic radii. Hydrodynamic size analysis and electron microscopy of GLUT1/lipid/detergent micelles and freeze-fracture electron ...
Graybill, Christopher A. +4 more
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2016
Glut1 Deficiency (Glut1D, OMIM #606777) is caused by impaired glucose transport into the brain. The resulting cerebral “energy crisis” causes intractable seizures, developmental delay, and a complex movement disorder. The diagnosis is based on clinical features, low CSF glucose and/or mutations in the SLC2A1 gene.
Joerg Klepper, Baerbel Leiendecker
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Glut1 Deficiency (Glut1D, OMIM #606777) is caused by impaired glucose transport into the brain. The resulting cerebral “energy crisis” causes intractable seizures, developmental delay, and a complex movement disorder. The diagnosis is based on clinical features, low CSF glucose and/or mutations in the SLC2A1 gene.
Joerg Klepper, Baerbel Leiendecker
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Neurology, 2011
The identification of an increasing number of diseases caused by specific gene mutations is gradually bridging the gap between clinical and genetic diagnosis, paving the way to precise nosology, pathophysiologic characterization of diseases, and availability of potential treatments.
VALENTE, Enza Maria, Albanese A.
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The identification of an increasing number of diseases caused by specific gene mutations is gradually bridging the gap between clinical and genetic diagnosis, paving the way to precise nosology, pathophysiologic characterization of diseases, and availability of potential treatments.
VALENTE, Enza Maria, Albanese A.
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Atypical Manifestations in Glut1 Deficiency Syndrome
Journal of Child Neurology, 2016Glucose transporter type 1 deficiency syndrome is a genetically determined, treatable, neurologic disorder that is caused by an insufficient transport of glucose into the brain. It is caused by a mutation in the SCL2A1 gene, which is so far the only known to be associated with this condition.
V. De Giorgis +7 more
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GLUT1 is Highly Expressed in Cementoblasts but not in Osteoblasts
Connective Tissue Research, 2005Cementum is a specialized mineralized tissue covering root surface of the tooth. Although the tissue's composition resembles bone, there are distinct structural and functional differences between the two mineralized tissues. In this study, the genes that are differentially expressed in putative cementoblasts (human cementum-derived cells [HCDCs ...
Atsushi Kasamatsu +7 more
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Neurology, 2012
The genetic generalized epilepsies (GGEs), previously called the idiopathic generalized epilepsies, account for one-quarter of all epilepsies and have a genetic basis. Clinical genetic insights, drawing on the high heritability shown in family aggregation and twin studies, suggest that the common syndromes, such as childhood absence epilepsy (CAE) and ...
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The genetic generalized epilepsies (GGEs), previously called the idiopathic generalized epilepsies, account for one-quarter of all epilepsies and have a genetic basis. Clinical genetic insights, drawing on the high heritability shown in family aggregation and twin studies, suggest that the common syndromes, such as childhood absence epilepsy (CAE) and ...
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GLUT1 deficiency syndrome – 2007 update
Developmental Medicine & Child Neurology, 2007GLUT1 deficiency syndrome (GLUT1DS, OMIM 606777) is a treatable epileptic encephalopathy resulting from impaired glucose transport into the brain. The essential biochemical finding is a low glucose concentration in the cerebrospinal fluid (CSF; hypoglycorrhachia; mean 1.7 [SD 0.3mmol/L]) in the setting of normoglycaemia. CSF lactate is normal. Patients
Klepper, Jörg, Leiendecker, Bärbel
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GLUT1 deficiency syndrome in clinical practice
Epilepsy Research, 2012GLUT1 deficiency syndrome (GLUT1DS) is caused by impaired glucose transport into brain and is effectively treated by means of a ketogenic diet. In clinical practice the diagnosis of GLUT1DS often is challenging due to the increasing complexity of symptoms, diagnostic cut-offs for hypoglycorrhachia and genetic heterogeneity.
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Glut1 deficiency: When to suspect and how to diagnose?
European Journal of Paediatric Neurology, 2012Impaired glucose transport across the blood-brain barrier results in GLUT1 deficiency syndrome (GLUT1-DS), characterized by infantile seizures, developmental delay, acquired microcephaly, spasticity, ataxia, and hypoglycorrhachia. A part from this classic phenotype, clinical conditions associated with a deficiency of GLUT1 are highly variable and ...
Verrotti, A. +3 more
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