Glucose transporter type I deficiency syndrome: Epilepsy phenotypes and outcomes
نویسندگان
چکیده
منابع مشابه
Intermittent Ataxia with Early Onset Absence Epilepsy in Glucose Transporter Type 1 Deficiency Syndrome.
A 4-year-old girl, born to healthy non consanguineous parents after an uneventful pregnancy and delivery with normal birth weight, presented with history of absence seizures and ataxia since 7 months of age. Absence seizures and ataxia were worse in the fasting state. She was otherwise able to walk and run, and had a normal speech. On examination, she had microcephaly (head circumference 46 cm)...
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Glucose transporter type 1 (GLUT1) deficiency syndrome (GLUT1-DS) leads to a wide range of neurological symptoms. Ketogenic diets are very efficient to control epilepsy and movement disorders. We tested a novel simple and rapid blood test in 30 patients with GLUT1-DS with predominant movement disorders, 18 patients with movement disorders attributed to other genetic defects, and 346 healthy con...
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We review the three genetically determined disorders of glucose transport across cell membranes. Diseases such as glucose-galactose malabsorption, Fanconi-Bickel syndrome and De Vivo disease (GLUT1 deficiency syndrome (GLUT1DS)) arise from heritable mutations in transporter-encoding genes that impair monosaccharide uptake, which becomes rate-limiting in tissues where the transporters serve as t...
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The mechanism underlying the pathogenesis of schizophrenia remains poorly understood. The hyper-dopamine and hypo-NMDA receptor hypotheses have been the most enduring ideas. Recently, emerging evidence implicates alterations of the major inhibitory system, GABAergic neurotransmission in the schizophrenic patients. However, the pathophysiological role of GABAergic system in schizophrenia still r...
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ژورنال
عنوان ژورنال: Epilepsia
سال: 2012
ISSN: 0013-9580
DOI: 10.1111/j.1528-1167.2012.03592.x