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Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder
- Source :
- Brain, vol. 133, no. 3, pp. 655-670, Brain, 133, 655-70, Brain, 133, 655-670. Oxford University Press, Brain, Brain, 133(Part 3), 655-670. Oxford University Press, Brain, 133, Pt 3, pp. 655-70
- Publication Year :
- 2010
-
Abstract
- Contains fulltext : 88466.pdf (Publisher’s version ) (Closed access) Glucose transporter-1 deficiency syndrome is caused by mutations in the SLC2A1 gene in the majority of patients and results in impaired glucose transport into the brain. From 2004-2008, 132 requests for mutational analysis of the SLC2A1 gene were studied by automated Sanger sequencing and multiplex ligation-dependent probe amplification. Mutations in the SLC2A1 gene were detected in 54 patients (41%) and subsequently in three clinically affected family members. In these 57 patients we identified 49 different mutations, including six multiple exon deletions, six known mutations and 37 novel mutations (13 missense, five nonsense, 13 frame shift, four splice site and two translation initiation mutations). Clinical data were retrospectively collected from referring physicians by means of a questionnaire. Three different phenotypes were recognized: (i) the classical phenotype (84%), subdivided into early-onset (
- Subjects :
- Male
Movement disorders
Adolescent
Adult
Age of Onset
Carbohydrate Metabolism, Inborn Errors/diagnosis
Carbohydrate Metabolism, Inborn Errors/genetics
Child
Child, Preschool
Dyskinesias/diagnosis
Dyskinesias/genetics
Epilepsy/diagnosis
Epilepsy/genetics
Female
Glucose Transporter Type 1/deficiency
Glucose Transporter Type 1/genetics
Humans
Infant
Ketogenic Diet
Mental Retardation/diagnosis
Mental Retardation/genetics
Mutation
Phenotype
Retrospective Studies
Syndrome
Young Adult
FACILITATIVE GLUCOSE-TRANSPORTER
medicine.medical_treatment
GLUT1 deficiency syndrome
Medizin
SLC2A1 gene
Neuroinformatics [DCN 3]
Epilepsy
Genotype
CYSTEINE-SCANNING MUTAGENESIS
Missense mutation
EPILEPSY
Glucose Transporter Type 1
ketogenic diet
medicine.symptom
Diet, Ketogenic
Functional Neurogenomics [DCN 2]
Carbohydrate Metabolism, Inborn Errors
medicine.medical_specialty
phenotype
PROTEINS
SLC2A1
KETOGENIC-DIET
cerebrospinal fluid
INDUCED DYSKINESIAS
Genomic disorders and inherited multi-system disorders [IGMD 3]
De Vivo disease
Intellectual Disability
Internal medicine
medicine
GLUT-1 DEFICIENCY
Dyskinesias
BLOOD-BRAIN-BARRIER
MUTATIONS
business.industry
Glucose transporter
medicine.disease
Endocrinology
Human medicine
Neurology (clinical)
business
Ketogenic diet
Subjects
Details
- ISSN :
- 00068950
- Volume :
- 133
- Database :
- OpenAIRE
- Journal :
- Brain
- Accession number :
- edsair.doi.dedup.....baa23e89c1539e5d537691bf49ae6c1e