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Title
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Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy
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Author
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Abstract
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| Objective To determine if a significant proportion of patients with myoclonic-astatic epilepsy (MAE) have glucose transporter 1 (GLUT1) deficiency. Design Genetic analysis. Setting Ambulatory and hospitalized care. Patients Eighty-four unrelated probands with MAE were phenotyped and SLC2A1 was sequenced and analyzed by multiplex ligation-dependent probe amplification. Any identified mutations were then screened in controls. Main Outcome Measure Any SLC2A1 mutations. Results Four of 84 probands with MAE had a mutation of SLC2A1 on sequencing. Multiplex ligation-dependent probe amplification analysis did not reveal any genomic rearrangements in 75 of the remaining cases; 5 could not be tested. Two patients with MAE with SLC2A1 mutations also developed paroxysmal exertional dyskinesia in childhood. Conclusions Five percent of our patients with MAE had SLC2A1 mutations, suggesting that patients with MAE should be tested for GLUT1 deficiency. Diagnosis of GLUT1 deficiency is a strong indication for early use of the ketogenic diet, which may substantially improve outcome of this severe disorder. |
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Language
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English
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Source (journal)
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Archives of neurology / American Medical Association. - Chicago, Ill., 1960 - 2012
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Publication
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Chicago, Ill.
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2011
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ISSN
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0003-9942
[print]
1538-3687
[online]
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DOI
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10.1001/ARCHNEUROL.2011.102
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Volume/pages
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68
:9
(2011)
, p. 1152-1155
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ISI
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000294693200007
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Full text (Publisher's DOI)
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Full text (publisher's version - intranet only)
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