Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/71387
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Type: Journal article
Title: The role of seizure-related SEZ6 as a susceptibility gene in febrile seizures
Author: Mulley, J.
Iona, X.
Hodgson, B.
Heron, S.
Berkovic, S.
Scheffer, I.
Dibbens, L.
Citation: Neurology Research International, 2011; 2011:1-4
Publisher: Hindawi Publishing Corporation
Issue Date: 2011
ISSN: 2090-1860
2090-1860
Statement of
Responsibility: 
John C. Mulley, Xenia Iona, Bree Hodgson, Sarah E. Heron, Samuel F. Berkovic, Ingrid E. Scheffer and Leanne M. Dibbens
Abstract: 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.
Rights: Copyright © 2011 John C. Mulley et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
DOI: 10.1155/2011/917565
Appears in Collections:Aurora harvest
Paediatrics publications

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