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rdf:type |
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lifeskim:mentions |
umls-concept:C0014556,
umls-concept:C0017337,
umls-concept:C0030705,
umls-concept:C0205419,
umls-concept:C0332281,
umls-concept:C0679058,
umls-concept:C1412494,
umls-concept:C1416577,
umls-concept:C1515021,
umls-concept:C1547699,
umls-concept:C2700640
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pubmed:issue |
1
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pubmed:dateCreated |
2010-2-3
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pubmed:abstractText |
The etiopathogenesis of temporal lobe epilepsy (TLE) and its subgroups - mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS) and TLE with antecedent febrile seizures (TLE-FS) - is poorly understood. It has been proposed that the water channel aquaporin-4 (AQP4) and the potassium channel Kir4.1 (KCNJ10 gene) act in concert to regulate extracellular K(+) homeostasis and that functional alterations of these channels influence neuronal excitability. The current study was designed to identify variants of the AQP4 and KCNJ10 genes associated with TLE and subgroups of this condition.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
1872-6844
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pubmed:author |
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pubmed:copyrightInfo |
2009 Elsevier B.V. All rights reserved.
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pubmed:issnType |
Electronic
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pubmed:volume |
88
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
55-64
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pubmed:meshHeading |
pubmed-meshheading:19864112-Adult,
pubmed-meshheading:19864112-Aged,
pubmed-meshheading:19864112-Aquaporin 4,
pubmed-meshheading:19864112-Epilepsy, Temporal Lobe,
pubmed-meshheading:19864112-Female,
pubmed-meshheading:19864112-Gene Frequency,
pubmed-meshheading:19864112-Genetic Association Studies,
pubmed-meshheading:19864112-Genetic Predisposition to Disease,
pubmed-meshheading:19864112-Genotype,
pubmed-meshheading:19864112-Hippocampus,
pubmed-meshheading:19864112-Humans,
pubmed-meshheading:19864112-Male,
pubmed-meshheading:19864112-Middle Aged,
pubmed-meshheading:19864112-Multivariate Analysis,
pubmed-meshheading:19864112-Polymorphism, Single Nucleotide,
pubmed-meshheading:19864112-Potassium Channels, Inwardly Rectifying,
pubmed-meshheading:19864112-Sclerosis,
pubmed-meshheading:19864112-Young Adult
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pubmed:year |
2010
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pubmed:articleTitle |
Variants of the genes encoding AQP4 and Kir4.1 are associated with subgroups of patients with temporal lobe epilepsy.
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pubmed:affiliation |
Department of Neurology, Rikshospitalet University Hospital, Oslo, Norway. kjell.heuser@rikshospitalet.no
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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