title: Brain correlates of spike and wave discharges in GLUT1 deficiency syndrome.
abstract: To provide imaging biomarkers of generalized spike-and-wave discharges (GSWD) in patients with GLUT1 deficiency syndrome (GLUT1DS).
  
  
  
  Eighteen GLUT1DS patients with pathogenetic mutation in SLC2A1 gene were studied by means of Video-EEG simultaneously recorded with functional MRI (VideoEEG-fMRI). A control group of sex and age-matched patients affected by Genetic Generalized Epilepsy (GGE) with GSWD were investigated with the same protocol. Within and between groups comparison was performed as appropriated. For GLUT1DS, correlations analyses between the contrast of interest and the main clinical measurements were provided.
  
  
  
  EEG during fMRI revealed interictal GSWD in 10 GLUT1DS patients. Group-level analysis showed BOLD signal increases at the premotor cortex and putamen. With respect to GGE, GLUT1DS patients demonstrated increased neuronal activity in the putamen, precuneus, cingulate cortex, SMA and paracentral lobule. Whole-brain correlation analyses disclosed a linear relationship between the GSWD-related BOLD changes and the levels of glycorrhachia at diagnosis over the sensory-motor cortex and superior parietal lobuli.
  
  
  
  The BOLD dynamics related to GSWD in GLUT1DS are substantially different from typical GGE showing the former an increased activity in the premotor-striatal network and a decrease in the thalamus. The revealed hemodynamic maps might represent imaging biomarkers of GLUT1DS, being potentially useful for a precocious diagnosis of this genetic disorder.
authors.affiliation: Department of Biomedical, Metabolic, and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy; N.O.C.S.A.E. Hospital, AUSL Modena, 41100 Modena, Italy.
authors.forename: Anna Elisabetta
authors.initials: AE
authors.lastname: Vaudano
authors.affiliation: Brain and Behavior Department, University of Pavia, Pavia, Italy.
authors.forename: Sara
authors.initials: S
authors.lastname: Olivotto
authors.affiliation: Department of Biomedical, Metabolic, and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Ruggieri
authors.affiliation: N.O.C.S.A.E. Hospital, AUSL Modena, 41100 Modena, Italy.
authors.forename: Giuliana
authors.initials: G
authors.lastname: Gessaroli
authors.affiliation: Brain and Behavior Department, University of Pavia, Pavia, Italy.
authors.forename: Valentina
authors.initials: V
authors.lastname: De Giorgis
authors.affiliation: Child Neurology and Psychiatry Unit, Policlinico S. Orsola-Malpighi, Bologna, Italy; Department of Medical and Surgical Sciences, University of Bologna, Italy.
authors.forename: Antonia
authors.initials: A
authors.lastname: Parmeggiani
authors.affiliation: Brain and Behavior Department, University of Pavia, Pavia, Italy; Department of Child Neurology and Psychiatry, "C. Mondino" National Neurological Institute, Pavia, Italy.
authors.forename: Pierangelo
authors.initials: P
authors.lastname: Veggiotti
authors.affiliation: Department of Biomedical, Metabolic, and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy; N.O.C.S.A.E. Hospital, AUSL Modena, 41100 Modena, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: Meletti
mesh_terms: D000293:Adolescent; D000328:Adult; D001479:Basal Ganglia / Q000000981:diagnostic imaging / Q000503:physiopathology*; D015415:Biomarkers; D002239:Carbohydrate Metabolism, Inborn Errors / Q000000981:diagnostic imaging / Q000503:physiopathology*; D002540:Cerebral Cortex / Q000000981:diagnostic imaging / Q000503:physiopathology*; D002648:Child; D002675:Child, Preschool; D004569:Electroencephalography; D004829:Epilepsy, Generalized / Q000000981:diagnostic imaging / Q000503:physiopathology*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009004:Monosaccharide Transport Proteins / Q000172:deficiency*; D055815:Young Adult
chemical_list: D015415:Biomarkers; D009004:Monosaccharide Transport Proteins
keywords: Absence seizure; Basal ganglia; GLUT1; Generalized spike-and-wave discharges; Genetic generalized epilepsy