pubmed-article:16550559 | rdf:type | pubmed:Citation | lld:pubmed |
pubmed-article:16550559 | lifeskim:mentions | umls-concept:C0014544 | lld:lifeskim |
pubmed-article:16550559 | lifeskim:mentions | umls-concept:C0439849 | lld:lifeskim |
pubmed-article:16550559 | lifeskim:mentions | umls-concept:C0009952 | lld:lifeskim |
pubmed-article:16550559 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
pubmed-article:16550559 | lifeskim:mentions | umls-concept:C1708726 | lld:lifeskim |
pubmed-article:16550559 | lifeskim:mentions | umls-concept:C0039082 | lld:lifeskim |
pubmed-article:16550559 | lifeskim:mentions | umls-concept:C0445223 | lld:lifeskim |
pubmed-article:16550559 | lifeskim:mentions | umls-concept:C1552599 | lld:lifeskim |
pubmed-article:16550559 | lifeskim:mentions | umls-concept:C1314939 | lld:lifeskim |
pubmed-article:16550559 | lifeskim:mentions | umls-concept:C1704787 | lld:lifeskim |
pubmed-article:16550559 | pubmed:issue | 5 | lld:pubmed |
pubmed-article:16550559 | pubmed:dateCreated | 2006-4-25 | lld:pubmed |
pubmed-article:16550559 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:16550559 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:16550559 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:16550559 | pubmed:abstractText | Epilepsy is a paroxysmal disorder with a cumulative incidence of about 3%. About 13% of patients with epilepsy have a history of febrile seizures (FS). Generalized epilepsy with FS plus (GEFS+) is a familial epilepsy syndrome in which patients can have classic FS, FS that persist beyond the age of 5 years (i.e., FS+), and/or epilepsy. Both genetic and environmental factors have been shown to contribute to the pathogenesis of FS and GEFS+. During the past 10 years, molecular genetic studies have contributed a great deal to the identification of genetic factors involved in FS and GEFS+. In this study we aimed to provide a comprehensive review of currently known genes for FS and GEFS+, and the methods and approaches used to identify them. We also discuss the knowledge we currently have and hypotheses regarding the effect of the mutations on their respective protein functions. | lld:pubmed |
pubmed-article:16550559 | pubmed:language | eng | lld:pubmed |
pubmed-article:16550559 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:16550559 | pubmed:citationSubset | IM | lld:pubmed |
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pubmed-article:16550559 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:16550559 | pubmed:status | MEDLINE | lld:pubmed |
pubmed-article:16550559 | pubmed:month | May | lld:pubmed |
pubmed-article:16550559 | pubmed:issn | 1098-1004 | lld:pubmed |
pubmed-article:16550559 | pubmed:author | pubmed-author:Van... | lld:pubmed |
pubmed-article:16550559 | pubmed:author | pubmed-author:De... | lld:pubmed |
pubmed-article:16550559 | pubmed:author | pubmed-author:AudenaertDomi... | lld:pubmed |
pubmed-article:16550559 | pubmed:copyrightInfo | (c) 2006 Wiley-Liss, Inc. | lld:pubmed |
pubmed-article:16550559 | pubmed:issnType | Electronic | lld:pubmed |
pubmed-article:16550559 | pubmed:volume | 27 | lld:pubmed |
pubmed-article:16550559 | pubmed:owner | NLM | lld:pubmed |
pubmed-article:16550559 | pubmed:authorsComplete | Y | lld:pubmed |
pubmed-article:16550559 | pubmed:pagination | 391-401 | lld:pubmed |
pubmed-article:16550559 | pubmed:dateRevised | 2011-7-22 | lld:pubmed |
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pubmed-article:16550559 | pubmed:year | 2006 | lld:pubmed |
pubmed-article:16550559 | pubmed:articleTitle | Genes and loci involved in febrile seizures and related epilepsy syndromes. | lld:pubmed |
pubmed-article:16550559 | pubmed:affiliation | Department of Molecular Genetics, Neurogenetics Group, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerp, Belgium. | lld:pubmed |
pubmed-article:16550559 | pubmed:publicationType | Journal Article | lld:pubmed |
pubmed-article:16550559 | pubmed:publicationType | Review | lld:pubmed |
pubmed-article:16550559 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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