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Neurology Research International
Volume 2011 (2011), Article ID 917565, 4 pages
Research Article

The Role of Seizure-Related SEZ6 as a Susceptibility Gene in Febrile Seizures

1Department of Genetic Medicine, Directorate of Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, Adelaide, SA 5006, Australia
2School of Molecular and Biomedical Sciences, Discipline of Genetics, The University of Adelaide, Adelaide, SA 5000, Australia
3School of Pediatrics and Reproductive Health, Discipline of Pediatrics, The University of Adelaide, Adelaide, SA 5000, Australia
4School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, SA 5000, Australia
5Epilepsy Research Centre, University of Melbourne (Austin Health), West Heidelberg, VIC 3081, Australia
6Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC 3010, Australia
7Epilepsy Research Program, University of South Australia, City East Campus, C5-45, Adelaide, SA 5000, Australia

Received 31 January 2011; Revised 29 April 2011; Accepted 19 May 2011

Academic Editor: Vincenzo Di Lazzaro

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.


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.