17927801

Source:http://linkedlifedata.com/resource/pubmed/id/17927801

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0009952, umls-concept:C0014544, umls-concept:C0015576, umls-concept:C0240951, umls-concept:C0813145, umls-concept:C1858671
pubmed:issue	4
pubmed:dateCreated	2008-3-12
pubmed:abstractText	Mutations in the three genes SCN1A, SCN1B and GABRG2, all encoding subunits of ion channels, have been known to cause generalized epilepsy with febrile seizures plus (GEFS+) in families of different origin.
pubmed:grant	http://linkedlifedata.com/resource/pubmed/grant/NS31564
pubmed:commentsCorrections	http://linkedlifedata.com/resource/pubmed/commentcorrection/17927801-18616623
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/0370336
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/GABRG2 protein, human, http://linkedlifedata.com/resource/pubmed/chemical/Genetic Markers, http://linkedlifedata.com/resource/pubmed/chemical/Ion Channels, http://linkedlifedata.com/resource/pubmed/chemical/Nerve Tissue Proteins, http://linkedlifedata.com/resource/pubmed/chemical/Protein Subunits, http://linkedlifedata.com/resource/pubmed/chemical/Receptors, GABA-A, http://linkedlifedata.com/resource/pubmed/chemical/SCN1B protein, human, http://linkedlifedata.com/resource/pubmed/chemical/Sodium Channels, http://linkedlifedata.com/resource/pubmed/chemical/sodium channel, voltage-gated...
pubmed:status	MEDLINE
pubmed:month	Apr
pubmed:issn	1600-0404
pubmed:author	pubmed-author:BrandauBB, pubmed-author:CoreyL ALA, pubmed-author:EgelandTT, pubmed-author:FriisM LML, pubmed-author:KjeldsenM JMJ, pubmed-author:NakkenK OKO, pubmed-author:SelmerK KKK, pubmed-author:SolaasM HMH, pubmed-author:UndlienD EDE
pubmed:issnType	Electronic
pubmed:volume	117
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	289-92
pubmed:dateRevised	2010-11-18
pubmed:meshHeading	pubmed-meshheading:17927801-Chromosome Disorders, pubmed-meshheading:17927801-Chromosome Mapping, pubmed-meshheading:17927801-DNA Mutational Analysis, pubmed-meshheading:17927801-Denmark, pubmed-meshheading:17927801-Epilepsy, Generalized, pubmed-meshheading:17927801-Female, pubmed-meshheading:17927801-Gene Frequency, pubmed-meshheading:17927801-Genes, Dominant, pubmed-meshheading:17927801-Genetic Markers, pubmed-meshheading:17927801-Genetic Predisposition to Disease, pubmed-meshheading:17927801-Genetic Testing, pubmed-meshheading:17927801-Genotype, pubmed-meshheading:17927801-Humans, pubmed-meshheading:17927801-Inheritance Patterns, pubmed-meshheading:17927801-Ion Channels, pubmed-meshheading:17927801-Male, pubmed-meshheading:17927801-Mutation, pubmed-meshheading:17927801-Nerve Tissue Proteins, pubmed-meshheading:17927801-Norway, pubmed-meshheading:17927801-Protein Subunits, pubmed-meshheading:17927801-Receptors, GABA-A, pubmed-meshheading:17927801-Scandinavia, pubmed-meshheading:17927801-Seizures, Febrile, pubmed-meshheading:17927801-Sodium Channels
pubmed:year	2008
pubmed:articleTitle	Genetic screening of Scandinavian families with febrile seizures and epilepsy or GEFS+.
pubmed:affiliation	Institute of Medical Genetics, Faculty Division Ullevål University Hospital, University of Oslo, Oslo, Norway. k.k.selmer@medisin.uio.no
pubmed:publicationType	Journal Article, Research Support, Non-U.S. Gov't, Research Support, N.I.H., Extramural, Twin Study