EEG features of glut-1 deficiency syndrome.
OBJECTIVE
Glut-1 deficiency syndrome (Glut-1 DS) is caused by the deficiency of the major glucose transporter in cerebral microvessels.


METHODS
We performed pre- and postprandial EEG recordings in two unrelated children with Glut-1 DS with developmental delay and seizures predominantly in the morning before breakfast.


RESULTS
Extensive epileptiform discharges observed in the fasting state were improved markedly by food intake, as documented in EEG recordings 1 and 2 h after a meal. The ratio of cerebrospinal fluid glucose to blood glucose was decreased in both children. Glut-1 deficiency was confirmed by biochemical and molecular genetic investigations.


CONCLUSIONS
Pre- and postprandial EEG recordings offer a simple screening test for Glut-1 DS.
von Moers
Arpad
A
Department of Pediatrics and Neuropediatrics, Charité Campus Virchow, Humboldt University, Berlin, Germany.
Brockmann
Knut
K
Wang
Dong
D
Korenke
Christoph G
CG
Huppke
Peter
P
De Vivo
Darryl C
DC
Hanefeld
Folker
F
D000293:Adolescent; D001786:Blood Glucose / Q000032:analysis; D002675:Child, Preschool; D004569:Electroencephalography; D005215:Fasting / Q000502:physiology; D005260:Female; D005947:Glucose / Q000134:cerebrospinal fluid; D051272:Glucose Transporter Type 1; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000503:physiopathology*; D009004:Monosaccharide Transport Proteins / Q000172:deficiency*; D019518:Postprandial Period / Q000502:physiology; D013577:Syndrome
D001786:Blood Glucose; D051272:Glucose Transporter Type 1; D009004:Monosaccharide Transport Proteins; C495677:SLC2A1 protein, human; D005947:Glucose