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rdf:type |
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|
lifeskim:mentions |
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pubmed:issue |
7
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pubmed:dateCreated |
2002-7-15
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|
pubmed:abstractText |
Missense mutations in the GABRG2 gene, which encodes the gamma 2 subunit of central nervous gamma-aminobutyric acid (GABA)(A) receptors, have recently been described in 2 families with idiopathic epilepsy. In one of these families, the affected individuals predominantly exhibited childhood absence epilepsy and febrile convulsions.
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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 |
|
|
pubmed:status |
MEDLINE
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pubmed:month |
Jul
|
|
pubmed:issn |
0003-9942
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pubmed:author |
|
|
pubmed:issnType |
Print
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pubmed:volume |
59
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1137-41
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:12117362-Adolescent,
pubmed-meshheading:12117362-Alleles,
pubmed-meshheading:12117362-Epilepsy, Absence,
pubmed-meshheading:12117362-Exons,
pubmed-meshheading:12117362-Female,
pubmed-meshheading:12117362-Genotype,
pubmed-meshheading:12117362-Humans,
pubmed-meshheading:12117362-Male,
pubmed-meshheading:12117362-Mutation, Missense,
pubmed-meshheading:12117362-Polymorphism, Genetic,
pubmed-meshheading:12117362-Receptors, GABA-A,
pubmed-meshheading:12117362-Reverse Transcriptase Polymerase Chain Reaction,
pubmed-meshheading:12117362-Seizures, Febrile
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pubmed:year |
2002
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|
pubmed:articleTitle |
A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions.
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pubmed:affiliation |
Institute of Human Genetics, University Hospital Bonn, Rheinische Friedrich Wilhelms-University Bonn, Germany.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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