Study of paediatric patients with the clinical and biochemical phenotype of glucose transporter type 1 deficiency syndrome
Autor: | M, Jiménez Legido, C, Cortés Ledesma, B, Bernardino Cuesta, L, López Marín, V, Cantarín Extremera, C, Pérez-Cerdá, B, Pérez González, E, López Martín, L, González Gutiérrez-Solana |
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Přispěvatelé: | Instituto de Salud Carlos III |
Rok vydání: | 2018 |
Předmět: |
Early-onset absence epilepsy
Low CSF glucose Monosaccharide Transport Proteins SLC2A1 Hipoglucorraquia Epilepsia refractaria Paroxismal dyskinesia 03 medical and health sciences 0302 clinical medicine Phenotype Epilepsy Absence Humans Ausencias precoces Refractory epilepsy Child Discinesia paroxística GLUT1 030217 neurology & neurosurgery Carbohydrate Metabolism Inborn Errors |
Zdroj: | Repisalud Instituto de Salud Carlos III (ISCIII) |
ISSN: | 2173-5808 |
Popis: | [EN] Introduction: Glucose transporter type 1 (GLUT1) deficiency syndrome may present a range of phenotypes, including epilepsy, intellectual disability, and movement disorders. The majority of patients present low CSF glucose levels and/or defects in the SLC2A1 gene; however, some patients do not present low CSF glucose or SLC2A1 mutations, and may have other mutations in other genes with compatible phenotypes. Aims: We describe the clinical, biochemical, and genetic characteristics of the disease and perform a univariate analysis of a group of patients with clinical and biochemical phenotype of GLUT1 deficiency syndrome, with or without SLC2A1 mutations. Material and methods: The study included 13 patients meeting clinical and biochemical criteria for GLUT1 deficiency syndrome. SLC2A1 sequencing and multiplex ligation-dependent probe amplification were performed; exome sequencing was performed for patients with negative results. Results: Six patients presented the classic phenotype; 2 paroxysmal dyskinesia, 2 complex movement disorders, 2 early-onset absence seizures, and one presented drug-resistant childhood absence epilepsy. Six patients were positive for SLC2A1 mutations; in the other 5, another genetic defect was identified. No significant differences were observed between the 2 groups for age of onset, clinical presentation, microcephaly, intellectual disability, or response to ketogenic diet. Patients with SLC2A1 mutations presented more clinical changes in relation to diet (66.7%, vs 28.6% in the SLC2A1-negative group) and greater persistence of motor symptoms (66% vs 28.6%); these differences were not statistically significant. Significant differences were observed for CSF glucose level (34.5 vs 46mg/dL, P=.04) and CSF/serum glucose ratio (0.4 vs 0.48, P |
Databáze: | OpenAIRE |
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