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Glut‐1 deficiency syndrome masquerading
as idiopathic generalized epilepsy
Author(s) -
RouletPerez Eliane,
Ballhausen Diana,
Bonafé Luisa,
CronelOhayon Stephanie,
MaederIngvar Malin
Publication year - 2008
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1111/j.1528-1167.2008.01654.x
Subject(s) - epilepsy , ketogenic diet , pediatrics , generalized epilepsy , confusion , medicine , childhood absence epilepsy , neurological examination , neuropsychology , electroencephalography , psychology , psychiatry , cognition , psychoanalysis
Summary 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.