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life sciences & biomedicine (98) 98
science & technology (98) 98
slc2a1 (96) 96
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Journal Article
Seizure (London, England), ISSN 1059-1311, 01/2018, Volume 54, pp. 41 - 44
Purpose GLUT1-deficiency syndrome (GLUT1-DS) is a metabolic brain disorder with a great clinical heterogeneity underlined by various mutations in the SLC2A1... 
GLUT1-DS | SLC2A1 mutations | aCGH analysis
Journal Article
Journal of the neurological sciences, ISSN 0022-510X, 09/2020, Volume 416, pp. 117041 - 117041
The study aimed to investigate the role of molecular analysis of SLC2A1 in the diagnostic workup of glucose transporter 1 deficiency syndrome (Glut1DS). During... 
SLC2A1 | Intellectual disability | Glucose transporter 1 deficiency syndrome | Epilepsy | Movement disorder | Paroxysmal dyskinesia | Index Medicus
Journal Article
Journal of Pediatric Neurosciences, ISSN 1817-1745, 10/2018, Volume 13, Issue 4, pp. 496 - 499
Glucose transporter type 1 deficiency syndrome (GLUT1-DS) was first described by De Vivo in 1991, and the classic clinical manifestations include infantile... 
Ataxia | Genetic aspects | Research | Gene mutations | Pediatric research | Biological transport | Genes | Epilepsy | Physiological aspects | Glucose | Dextrose | Genotype & phenotype | Convulsions & seizures | Gait | Biomarkers | Electroencephalography | Mutation | Microcephaly | Patients | SLC2A1 gene | movement disorder | ketogenic diet | Glucose transporter type 1 deficiency syndrome | Case Report
Journal Article