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.
Department of Pediatrics and Neuropediatrics, Charité Campus Virchow, Humboldt University, Berlin, Germany.
Arpad
A
von Moers
Knut
K
Brockmann
Dong
D
Wang
Christoph G
CG
Korenke
Peter
P
Huppke
Darryl C
DC
De Vivo
Folker
F
Hanefeld
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