Screening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency syndrome: identification of novel variants and associated phenotypes
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DOI: 10.1007/s00415-019-09280-6
Abstract: Glucose transporter type 1 deficiency syndrome (Glut1 DS) is a rare neurological disorder caused by impaired glucose delivery to the brain. The clinical spectrum of Glut1 DS mainly includes epilepsy, paroxysmal dyskinesia (PD), developmental delay… read more here.
Keywords: epilepsy; deficiency syndrome; screening slc2a1; identification ... See more keywords