Sindrome da deficit di GLUT-1: Fenotipi "atipici" associati a nuove mutazioni nel gene SLC2A1

Translated title of the contribution: GLUT-1 deficiency syndrome: Atypical variants associated with new mutations in SLC2A1 gene

C. Ciampa, A. Coppola, L. Del Gaudio, F. Zara, P. Striano, S. Striano

Research output: Contribution to journalArticle

Abstract

Glucose transporter deficiency syndrome (GLUT1-DS) is a metabolic encephalopathy caused by mutations in the SLC2A1 gene, mapped to the short arm of chromosome 1 (1p35-31.3), coding for GLUT1, a glycoprotein that carries glucose in the brain cells. It is expressed constitutively in erythrocytes, in brain microvessels and in astroglia. The classic phenotype of GLUT1-DS was first described by De Vivo in 1991 and it includes a range of complex movement disorders, epilepsy, mental delay, acquired microcephaly, with onset under a year of age. To date around 100 different mutations in SLC2A1 gene has been described in approximately 200 patients, many of which are associated with atypical variants with isolated disorders. We describe two patients with epilepsy, mental retardation, mild movement disorders and new mutations in the SLC2A1 gene. The clinical and neuroradiological features of our patients confirm the large variability of the clinical spectrum between patients with different mutations and between patients with the same mutation reported in the literature. Until now, however, the phenotype-genotype correlations in patients with GLUT1-DS are poor. In conclusion we underline that the description of the phenotype of these patients is essential to better delineate the clinical spectrum of this syndrome, to genetic counselling, to the possible therapeutic implications and to prognostic information.

Translated title of the contributionGLUT-1 deficiency syndrome: Atypical variants associated with new mutations in SLC2A1 gene
Original languageItalian
Pages (from-to)190-194
Number of pages5
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number145
Publication statusPublished - Apr 2013

ASJC Scopus subject areas

  • Clinical Neurology

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