Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome

Epilepsia. 2003 May;44(5):701-7. doi: 10.1046/j.1528-1157.2003.05302.x.


Purpose: To characterize seizure types and electroencephalographic features of glucose transporter type 1 deficiency syndrome (Glut-1 DS).

Methods: Twenty children with clinical and laboratory features of Glut-1 DS were evaluated. Age at seizure diagnosis, seizure classification, and response to treatment were determined by chart review. Thirty-two continuous 24-h EEG monitoring sessions and reports of 42 routine EEG studies were assessed.

Results: Age at seizure diagnosis was between 4 weeks and 18 months (mean, 5 months). Seizure types were generalized tonic or clonic (14), absence (10), partial (nine), myoclonic (six), or astatic (four). During 24-h EEGs, background activity showed generalized 2.5- to 4-Hz spike-wave discharges (41%), generalized slowing or attenuation (34%), no abnormalities (34%), focal epileptiform discharges (13%), or focal slowing or attenuation (9%). No seizures were captured during 69% of the studies; the remainder had absence (19%), myoclonic (9%), or partial seizures (3%). On evaluation of routine and 24-h EEG studies, focal epileptiform discharges (24%) and slowing (11%) were more frequent in ages 0-24 months. In older children (2-8 years), generalized epileptiform discharges (37.5%) and slowing (21%) were more common.

Conclusions: In all ages, a normal interictal EEG was the most common EEG finding. When abnormalities occurred, focal slowing or epileptiform discharges were more prevalent in the infant. In older children (2 years or older), a generalized 2.5- to 4-Hz spike-wave pattern emerged. Seizure types observed included, absence, myoclonic, partial, and astatic.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Cerebral Cortex / physiopathology
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 1
  • Diagnosis, Differential
  • Dietary Fats / administration & dosage
  • Electroencephalography*
  • Epilepsy / diagnosis
  • Epilepsy / diet therapy
  • Epilepsy / genetics*
  • Epilepsy / physiopathology
  • Evoked Potentials / physiology
  • Female
  • Follow-Up Studies
  • Glucose / cerebrospinal fluid
  • Glucose Transporter Type 1
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Monitoring, Physiologic
  • Monosaccharide Transport Proteins / deficiency*
  • Syndrome


  • Dietary Fats
  • Glucose Transporter Type 1
  • Monosaccharide Transport Proteins
  • SLC2A1 protein, human
  • Glucose