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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
2010-8-3
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pubmed:abstractText |
Familial glucose transporter type 1 (GLUT1) deficiency due to autosomal dominant inheritance of SLC2A1 mutations is associated with paroxysmal exertional dyskinesia; epilepsy and intellectual disability occur in some family members. We recently demonstrated that GLUT1 deficiency occurs in over 10% of patients with early-onset absence epilepsy.
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
1526-632X
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:day |
3
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pubmed:volume |
75
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
432-40
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pubmed:meshHeading |
pubmed-meshheading:20574033-Adolescent,
pubmed-meshheading:20574033-Adult,
pubmed-meshheading:20574033-Age of Onset,
pubmed-meshheading:20574033-Child,
pubmed-meshheading:20574033-Child, Preschool,
pubmed-meshheading:20574033-Chorea,
pubmed-meshheading:20574033-Epilepsy, Absence,
pubmed-meshheading:20574033-Family,
pubmed-meshheading:20574033-Glucose,
pubmed-meshheading:20574033-Glucose Transporter Type 1,
pubmed-meshheading:20574033-Humans,
pubmed-meshheading:20574033-Mutation,
pubmed-meshheading:20574033-Pedigree,
pubmed-meshheading:20574033-Phenotype,
pubmed-meshheading:20574033-Young Adult
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pubmed:year |
2010
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pubmed:articleTitle |
Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency.
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pubmed:affiliation |
Epilepsy Research Centre, Neuroscience Building, Department of Medicine, The University of Melbourne, Austin Health, Melbourne, Australia.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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