21785725

Source:http://linkedlifedata.com/resource/pubmed/id/21785725

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0009952, umls-concept:C0035820, umls-concept:C0919453, umls-concept:C1423859
pubmed:dateCreated	2011-7-25
pubmed:abstractText	Sixty cases of febrile seizures from a Chinese cohort had previously been reported with a strong association between variants in the seizure-related (SEZ) 6 gene and febrile seizures. They found a striking lack of genetic variation in their controls. We found genetic variation in SEZ6 at similar levels at the same DNA sequence positions in our 94 febrile seizure cases as in our 96 unaffected controls. Two of our febrile seizure cases carried rare variants predicted to have damaging consequences. Combined with some of the variants from the Chinese cohort, these data are compatible with a role for SEZ6 as a susceptibility gene for febrile seizures. However, the polygenic determinants underlying most cases of febrile seizures with complex inheritance remain to be determined.
pubmed:commentsCorrections	http://linkedlifedata.com/resource/pubmed/commentcorrection/21785725-15269077, http://linkedlifedata.com/resource/pubmed/commentcorrection/21785725-16244322, http://linkedlifedata.com/resource/pubmed/commentcorrection/21785725-16550559, http://linkedlifedata.com/resource/pubmed/commentcorrection/21785725-17086543, http://linkedlifedata.com/resource/pubmed/commentcorrection/21785725-17357078, http://linkedlifedata.com/resource/pubmed/commentcorrection/21785725-18031681, http://linkedlifedata.com/resource/pubmed/commentcorrection/21785725-18262675, http://linkedlifedata.com/resource/pubmed/commentcorrection/21785725-20471002, http://linkedlifedata.com/resource/pubmed/commentcorrection/21785725-21285335, http://linkedlifedata.com/resource/pubmed/commentcorrection/21785725-7723619, http://linkedlifedata.com/resource/pubmed/commentcorrection/21785725-8730286
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/101543314
pubmed:status	PubMed-not-MEDLINE
pubmed:issn	2090-1860
pubmed:author	pubmed-author:BerkovicSamuel FSF, pubmed-author:DibbensLeanne MLM, pubmed-author:HeronSarah ESE, pubmed-author:HodgsonBreeB, pubmed-author:IonaXeniaX, pubmed-author:MulleyJohn CJC, pubmed-author:SchefferIngrid EIE
pubmed:issnType	Electronic
pubmed:volume	2011
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	917565
pubmed:year	2011
pubmed:articleTitle	The Role of Seizure-Related SEZ6 as a Susceptibility Gene in Febrile Seizures.
pubmed:affiliation	Department of Genetic Medicine, Directorate of Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, Adelaide, SA 5006, Australia.
pubmed:publicationType	Journal Article