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Glucose transporter type I deficiency syndrome (GLUT1 DS OMIM No. 606777) is an inborn error of glucose transport characterized by seizures, developmental delay, spasticity, acquired microcephaly, and ataxia.1 In addition, in many patients paroxysmal events other than epilepsy have been described,2 but limited information is available regarding their phenomenology and classification. We report on clinical and genetic features of three unrelated Italian female patients with GLUT1 DS, diagnosed in early adulthood, all presenting with paroxysms of abnormal movements as the most relevant and disabling symptom.
Methods.
Medical history was obtained from interviews of patients and their relatives and from medical records. Patients were diagnosed with GLUT1 DS according to the established clinical and biochemical criteria and confirmed by genetic testing.1 Patients and healthy relatives’ DNA was extracted from venous peripheral blood lymphocytes according to standard procedures. All exons and intron-exons boundaries (exon 1–10) of the GLUT1 gene were tested for mutations by direct sequence analysis using an automated sequencing system (ABI Prism 3100 Genetic Analyzer; Applied Biosystems). Real time PCR was performed (7300 Real-Time PCR System, …
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