| Refractory absence epilepsy associated with GLUT-1 deficiency syndrome. | |
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MedLine Citation:
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PMID: 21366555 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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GLUT-1 deficiency syndrome (GLUT-1 DS) is a disorder of cerebral glucose transport associated with early infantile epilepsy and microcephaly. We report two boys who presented with refractory absence epilepsy associated with hypoglycorrhachia, both of whom have genetically confirmed GLUT-1 DS. We propose that these children serve to expand the phenotype of GLUT-1 DS and suggest that this condition should be considered as a cause of refractory absence seizures in childhood. |
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Authors:
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Susan Byrne; Jacinta Kearns; Ray Carolan; Joseph Mc Menamin; Joerg Klepper; David Webb |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-3-2 |
Journal Detail:
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Title: Epilepsia Volume: - ISSN: 1528-1167 ISO Abbreviation: - Publication Date: 2011 Mar |
Date Detail:
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Created Date: 2011-3-3 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 2983306R Medline TA: Epilepsia Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Wiley Periodicals, Inc. © 2011 International League Against Epilepsy. |
Affiliation:
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Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland The Children's Hospital, Aschaffenburg, Germany. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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