Glut-1 deficiency syndrome masquerading as idiopathic generalized epilepsy
نویسندگان
چکیده
منابع مشابه
Fourteen-year follow-up in a teenager with congenital long QT syndrome masquerading as idiopathic generalized epilepsy.
Long QT syndrome is a potentially lethal cardiac channelopathy that can be mistaken for epilepsy in young people. We report a 17-year-old man who was initially treated as having both daytime and nocturnal idiopathic epilepsy for 5 years. A series of electrocardiograms showed the time of the convulsive episodes, and genetic testing lead to the final diagnosis. The combined use of a beta-blocker ...
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متن کاملSeizure characterization and electroencephalographic features in Glut-1 deficiency syndrome.
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 re...
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Impaired glucose transport across the blood-brain barrier results in Glut-1 deficiency syndrome (Glut-1 DS, OMIM 606777), characterized by infantile seizures, developmental delay, acquired microcephaly, spasticity, ataxia, and hypoglycorrhachia. We studied 16 new Glut-1 deficiency syndrome patients focusing on clinical and laboratory features, molecular genetics, genotype-phenotype correlation,...
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ژورنال
عنوان ژورنال: Epilepsia
سال: 2008
ISSN: 0013-9580,1528-1167
DOI: 10.1111/j.1528-1167.2008.01654.x