Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome.
OBJECTIVE
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.
Leary
Linda D
LD
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, New York, U.S.A. ldl8@coluymbia.edu
Wang
Dong
D
Nordli
Douglas R
DR
Engelstad
Kristin
K
De Vivo
Darryl C
DC
D002540:Cerebral Cortex / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D002878:Chromosomes, Human, Pair 1; D003937:Diagnosis, Differential; D004041:Dietary Fats / Q000008:administration & dosage; D004569:Electroencephalography; D004827:Epilepsy / Q000175:diagnosis / Q000178:diet therapy / Q000235:genetics* / Q000503:physiopathology; D005071:Evoked Potentials / Q000502:physiology; D005260:Female; D005500:Follow-Up Studies; D005947:Glucose / Q000134:cerebrospinal fluid; D051272:Glucose Transporter Type 1; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008991:Monitoring, Physiologic; D009004:Monosaccharide Transport Proteins / Q000172:deficiency*; D013577:Syndrome
D004041:Dietary Fats; D051272:Glucose Transporter Type 1; D009004:Monosaccharide Transport Proteins; C495677:SLC2A1 protein, human; D005947:Glucose