Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome.

Abstract

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.

• Authors: Linda D Leary, Dong Wang, Douglas R Nordli Jr, Kristin Engelstad, Darryl C De Vivo
• Journal: Epilepsia (Epilepsia) Vol. 44 Issue 5 Pg. 701-7 (May 2003) ISSN: 0013-9580 [Print] United States
• PMID: 12752470 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

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

Topics

• Cerebral Cortex (physiopathology)
• Child
• Child, Preschool
• Chromosomes, Human, Pair 1
• Diagnosis, Differential
• Dietary Fats (administration & dosage)
• Electroencephalography
• Epilepsy (diagnosis, diet therapy, genetics, 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