rdf:type |
|
lifeskim:mentions |
|
pubmed:issue |
5
|
pubmed:dateCreated |
2006-4-25
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pubmed:databankReference |
|
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.
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pubmed:language |
eng
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pubmed:journal |
|
pubmed:citationSubset |
IM
|
pubmed:chemical |
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...,
http://linkedlifedata.com/resource/pubmed/chemical/sodium channel, voltage-gated...
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pubmed:status |
MEDLINE
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pubmed:month |
May
|
pubmed:issn |
1098-1004
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pubmed:author |
|
pubmed:copyrightInfo |
(c) 2006 Wiley-Liss, Inc.
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pubmed:issnType |
Electronic
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pubmed:volume |
27
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
391-401
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pubmed:dateRevised |
2011-7-22
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pubmed:meshHeading |
pubmed-meshheading:16550559-Epilepsy, Absence,
pubmed-meshheading:16550559-Epilepsy, Generalized,
pubmed-meshheading:16550559-Epilepsy, Temporal Lobe,
pubmed-meshheading:16550559-Genetic Linkage,
pubmed-meshheading:16550559-Humans,
pubmed-meshheading:16550559-Models, Animal,
pubmed-meshheading:16550559-Mutation,
pubmed-meshheading:16550559-Nerve Tissue Proteins,
pubmed-meshheading:16550559-Protein Structure, Tertiary,
pubmed-meshheading:16550559-Protein Subunits,
pubmed-meshheading:16550559-Receptors, GABA-A,
pubmed-meshheading:16550559-Seizures, Febrile,
pubmed-meshheading:16550559-Sodium Channels,
pubmed-meshheading:16550559-Syndrome
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pubmed:year |
2006
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pubmed:articleTitle |
Genes and loci involved in febrile seizures and related epilepsy syndromes.
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pubmed:affiliation |
Department of Molecular Genetics, Neurogenetics Group, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerp, Belgium.
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pubmed:publicationType |
Journal Article,
Review,
Research Support, Non-U.S. Gov't
|