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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2002-1-15
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pubmed:abstractText |
Recent findings from studies of two families have shown that mutations in the GABA(A)-receptor gamma2 subunit are associated with generalized epilepsies and febrile seizures. Here we describe a family that has generalized epilepsy with febrile seizures plus (GEFS(+)), including an individual with severe myoclonic epilepsy of infancy, in whom a third GABA(A)-receptor gamma2-subunit mutation was found. This mutation lies in the intracellular loop between the third and fourth transmembrane domains of the GABA(A)-receptor gamma2 subunit and introduces a premature stop codon at Q351 in the mature protein. GABA sensitivity in Xenopus laevis oocytes expressing the mutant gamma2(Q351X) subunit is completely abolished, and fluorescent-microscopy studies have shown that receptors containing GFP-labeled gamma2(Q351X) protein are retained in the lumen of the endoplasmic reticulum. This finding reinforces the involvement of GABA(A) receptors in epilepsy.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/11748509-10514838,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11748509-10521305,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11748509-10722739,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11748509-10742094,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11748509-11085880,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11748509-11254444,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11748509-11254445,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11748509-11326274,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11748509-11326275,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11748509-11359211,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11748509-11371648,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11748509-11422459,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11748509-11488881,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11748509-1370654,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11748509-1702644,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11748509-8550630,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11748509-9126059,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11748509-9647870,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11748509-9697698,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11748509-9711614,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11748509-9771735,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11748509-9894880
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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 |
Feb
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pubmed:issn |
0002-9297
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pubmed:author |
pubmed-author:BerkovicSamuel FSF,
pubmed-author:BowserDavid NDN,
pubmed-author:DibbensLeanne MLM,
pubmed-author:HarkinLouise ALA,
pubmed-author:MulleyJohn CJC,
pubmed-author:PetrouStevenS,
pubmed-author:PhillipsFionaF,
pubmed-author:RichardsMichaella CMC,
pubmed-author:SchefferIngrid EIE,
pubmed-author:SinghRitaR,
pubmed-author:WallaceRobyn HRH,
pubmed-author:WilliamsDavid ADA
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pubmed:issnType |
Print
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pubmed:volume |
70
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
530-6
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:11748509-Animals,
pubmed-meshheading:11748509-Base Sequence,
pubmed-meshheading:11748509-Cell Line,
pubmed-meshheading:11748509-Codon, Terminator,
pubmed-meshheading:11748509-Electrophysiology,
pubmed-meshheading:11748509-Endoplasmic Reticulum,
pubmed-meshheading:11748509-Epilepsies, Myoclonic,
pubmed-meshheading:11748509-Epilepsy, Generalized,
pubmed-meshheading:11748509-Female,
pubmed-meshheading:11748509-Humans,
pubmed-meshheading:11748509-Male,
pubmed-meshheading:11748509-Models, Molecular,
pubmed-meshheading:11748509-Oocytes,
pubmed-meshheading:11748509-Pedigree,
pubmed-meshheading:11748509-Protein Conformation,
pubmed-meshheading:11748509-Protein Subunits,
pubmed-meshheading:11748509-Receptors, GABA-A,
pubmed-meshheading:11748509-Seizures, Febrile,
pubmed-meshheading:11748509-Sequence Deletion,
pubmed-meshheading:11748509-Xenopus laevis,
pubmed-meshheading:11748509-gamma-Aminobutyric Acid
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pubmed:year |
2002
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pubmed:articleTitle |
Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus.
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pubmed:affiliation |
Centre for Medical Genetics, Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, Adelaide, South Australia, Australia. lharkin@wch.bionomics.com.au
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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