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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
11
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pubmed:dateCreated |
2009-3-17
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pubmed:abstractText |
Our aim was to investigate whether the risk of febrile seizures is influenced by a common functional polymorphism in the sodium channel gene SCN1A. This single nucleotide polymorphism (IVS5N+5 G>A, rs3812718) was shown to modify the proportion of two alternative transcripts of the channel.
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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 |
Mar
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pubmed:issn |
1526-632X
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pubmed:author |
pubmed-author:BalzarJJ,
pubmed-author:BaumgartnerCC,
pubmed-author:Gruber-SedlmayrUU,
pubmed-author:HotzyCC,
pubmed-author:IlliaRR,
pubmed-author:LauseckerMM,
pubmed-author:LichtnerPP,
pubmed-author:MeitingerTT,
pubmed-author:MuellerJ CJC,
pubmed-author:SchlachterKK,
pubmed-author:SchuhEE,
pubmed-author:StogmannEE,
pubmed-author:StromT MTM,
pubmed-author:WichmannH EHE,
pubmed-author:ZimprichAA,
pubmed-author:ZimprichFF
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pubmed:issnType |
Electronic
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pubmed:day |
17
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pubmed:volume |
72
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
974-8
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pubmed:meshHeading |
pubmed-meshheading:19289736-Adult,
pubmed-meshheading:19289736-Alleles,
pubmed-meshheading:19289736-Cohort Studies,
pubmed-meshheading:19289736-Female,
pubmed-meshheading:19289736-Gene Frequency,
pubmed-meshheading:19289736-Genotype,
pubmed-meshheading:19289736-Humans,
pubmed-meshheading:19289736-Male,
pubmed-meshheading:19289736-Nerve Tissue Proteins,
pubmed-meshheading:19289736-Polymorphism, Single Nucleotide,
pubmed-meshheading:19289736-Protein Isoforms,
pubmed-meshheading:19289736-Risk,
pubmed-meshheading:19289736-Seizures, Febrile,
pubmed-meshheading:19289736-Sodium Channels
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pubmed:year |
2009
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pubmed:articleTitle |
A splice site variant in the sodium channel gene SCN1A confers risk of febrile seizures.
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pubmed:affiliation |
Department of Pediatrics, LKH Bregenz, Austria.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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