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注意：仅列出部分参考文献，下载原文获取全部文献信息。Glucose transporter type I deficiency syndrome: Epilepsy phenotypes and outcomes
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EPILEPSIA (2012)
Glut1 deficiency: When to suspect and how to diagnose?
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EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2012)
Glut1 deficiency syndrome and erythrocyte glucose uptake assay
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Glucose transporter type 1 deficiency syndrome with carbohydrate-responsive symptoms but without epilepsy
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DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2011)
A modified Atkins diet is promising as a treatment for glucose transporter type 1 deficiency syndrome
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Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency
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Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder
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Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency
S. A. Mullen et al.
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The expanding phenotype of GLUT1-deficiency syndrome
Knut Brockmann
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Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1
Arvid Suls et al.
BRAIN (2008)
GLUT1 deficiency without epilepsy: Yet another case
Charuta Joshi et al.
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A quantitative overview of glucose dynamics in the gliovascular unit
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GLUT1 deficiency syndrome - 2007 update
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Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet
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MOVEMENT DISORDERS (2006)
Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome:: A 2- to 5-year follow-up of 15 children enrolled prospectively
J Klepper et al.
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DHPLC in clinical molecular diagnostic services
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MOLECULAR GENETICS AND METABOLISM (2005)
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GENETIC TESTING (2003)
Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome
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GLUT-1 deficiency without epilepsy - an exceptional case
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Imaging the metabolic footprint of Glut1 deficiency on the brain
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Autosomal dominant Glut-1 deficiency syndrome and familial epilepsy
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Mutant GABAA receptor γ2-subunit in childhood absence epilepsy and febrile seizures
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