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Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome
Linda D Leary1, Dong Wang, Douglas R Nordli
1Department of Neurology, Columbia University College of Physicians and Surgeons, New York, New York, U.S.A. ldl8@coluymbia.edu
Insights
Electroencephalogram (EEG) findings in glucose transporter type 1 deficiency syndrome (Glut-1 DS) vary by age. Infants often show focal abnormalities, while older children may exhibit generalized spike-wave patterns on EEG.
Area of Science:
- Neurology
- Pediatrics
- Clinical Neurophysiology
Background:
- Glucose transporter type 1 deficiency syndrome (Glut-1 DS) is a rare metabolic disorder affecting glucose transport into the brain.
- Characterizing seizure types and electroencephalographic (EEG) features is crucial for diagnosis and management of Glut-1 DS.
Observation:
- Twenty children with Glut-1 DS were evaluated for seizure types and EEG patterns.
- Seizure types included generalized tonic-clonic, absence, partial, myoclonic, and astatic seizures.
- EEG monitoring revealed diverse abnormalities, with normal interictal EEGs being most common across all ages.
Findings:
- In infants (0-24 months), focal epileptiform discharges and slowing were more prevalent on EEG.
- In older children (2-8 years), generalized 2.5- to 4-Hz spike-wave discharges emerged as a common finding.
- Absence seizures were the most frequently captured seizure type during 24-h EEG monitoring.
Implications:
- EEG findings in Glut-1 DS demonstrate age-dependent patterns, aiding in differential diagnosis.
- The identification of specific EEG abnormalities can guide further diagnostic investigations and therapeutic strategies.
- Understanding these electrophysiological characteristics contributes to improved clinical management of children with Glut-1 DS.
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.