Title
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Do Glut1 (glucose transporter type 1) defects exist in epilepsy patients responding to a ketogenic diet?
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Author
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Abstract
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In the recent years, several neurological syndromes related to defects of the glucose transporter type 1 (Glut1) have been descried. They include the glucose transporter deficiency syndrome (Glut1-DS) as the most severe form, the paroxysmal exertion-induced dyskinesia (FED), a form of spastic paraparesis (CSE) as well as the childhood (CAE) and the early-onset absence epilepsy (EOAE). Glut1, encoded by the gene SLC2A1, is the most relevant glucose transporter in the brain. All Glut1 syndromes respond well to a ketogenic diet (KD) and most of the patients show a rapid seizure control. Ketogenic Diet developed to an established treatment for other forms of pharmaco-resistant epilepsies. Since we were interested in the question if those patients might have an underlying Glut1 defect, we sequenced SLC2A1 in a cohort of 28 patients with different forms of pharmaco-resistant epilepsies responding well to a KD. Unfortunately, we could not detect any mutations in SLC2A1. The exact action mechanisms of MD in pharmaco-resistant epilepsy are not well understood, but bypassing the Glut1 transporter seems not to play an important role. (C) 2015 Elsevier B.V. All rights reserved. |
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Language
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English
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Source (journal)
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Epilepsy research. - Amsterdam
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Publication
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Amsterdam
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2015
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ISSN
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0920-1211
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DOI
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10.1016/J.EPLEPSYRES.2015.04.012
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Volume/pages
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114
(2015)
, p. 47-51
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ISI
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000357438400006
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Pubmed ID
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26088884
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Full text (Publisher's DOI)
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Full text (publisher's version - intranet only)
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