Journal
EPILEPSIA
Volume 49, Issue 11, Pages 1955-1958Publisher
WILEY-BLACKWELL
DOI: 10.1111/j.1528-1167.2008.01654.x
Keywords
Glut-1 deficiency syndrome; Idiopathic generalized epilepsy; Absence epilepsy; EEG
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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.
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