Glut-1 deficiency syndrome masquerading as idiopathic generalized epilepsy.
Details
Serval ID
serval:BIB_756237D8BF1B
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Glut-1 deficiency syndrome masquerading as idiopathic generalized epilepsy.
Journal
Epilepsia
ISSN
1528-1167
Publication state
Published
Issued date
2008
Peer-reviewed
Oui
Volume
49
Number
11
Pages
1955-1958
Language
english
Abstract
To report the case of a child with short absences and occasional myoclonias since infancy who was first diagnosed with an idiopathic generalized epilepsy, but was documented at follow-up to have a mild phenotype of glucose transporter type 1 deficiency syndrome. Unlike other reported cases of Glut-1 DS and epilepsy, this child had a normal development as well as a normal head growth and neurological examination. Early onset of seizures and later recognized episodes of mild confusion before meals together with persistent atypical EEG features and unexpected learning difficulties led to the diagnosis. Seizure control and neuropsychological improvements were obtained with a ketogenic diet.
Keywords
Child, Diagnosis, Differential, Electroencephalography, Epilepsies, Myoclonic, Epilepsy, Absence, Epilepsy, Generalized, Female, Glucose Transporter Type 1, Humans, Phenotype, Severity of Illness Index
Pubmed
Web of science
Open Access
Yes
Create date
26/02/2009 17:58
Last modification date
20/08/2019 15:32