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From splitting GLUT1 deficiency syndromes to overlapping phenotypes
Marie Hully1, Sandrine Vuillaumier-Barrot2, Christiane Le Bizec2
1AP-HP, Necker-Enfants Malades Hospital, Department of Pediatric Neurology, Paris, France.
European Journal of Medical Genetics
|July 21, 2015
Summary
Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a rare genetic disorder affecting glucose transport. This study highlights the classic phenotype
Area of Science:
- Neurology
- Genetics
- Metabolic Disorders
Background:
- Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a rare genetic disorder caused by SLC2A1 mutations, impairing glucose transport across the blood-brain barrier.
- The classic phenotype presents with epilepsy, intellectual disability, and movement disorders, but milder forms exist.
Purpose of the Study:
- To provide a comprehensive overview of GLUT1DS in a French cohort.
- To analyze clinical, electroencephalographic, biochemical, and neuroimaging findings in patients with GLUT1DS.
Main Methods:
- Molecular screening of SLC2A1 in 265 referred patients.
- Detailed clinical data analysis for 24 patients with confirmed SLC2A1 mutations.
Main Results:
- 53 point mutations and 5 deletions in SLC2A1 were identified.
- The classic phenotype was most frequent (87.5%), with delayed diagnosis (median 8 years 5 months).
- Myoclonic seizures correlated with more severe intellectual and movement disorders.
Conclusions:
- The classic phenotype is most common in GLUT1DS, with myoclonic seizures indicating severe forms.
- Significant variability exists, complicating genotype-phenotype correlations.
- Phenotypic evolution over time is possible, from milder to movement disorder-predominant forms.
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