Premium
EEG Features of Glut‐1 Deficiency Syndrome
Author(s) -
Von Moers Arpad,
Brockmann Knut,
Wang Dong,
Korenke Christoph G.,
Huppke Peter,
De Vivo Darryl C.,
Hanefeld Folker
Publication year - 2002
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1046/j.1528-1157.2002.50401.x
Subject(s) - postprandial , electroencephalography , glucose transporter , endocrinology , medicine , epilepsy , glucose transporter type 1 , morning , diabetes mellitus , insulin , psychiatry , glut1
Summary: Purpose: 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.