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Neurology Research International
Volume 2011 (2011), Article ID 917565, 4 pages
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.
- R. H. Wallace, S. F. Berkovic, R. A. Howell, G. R. Sutherland, and J. C. Mulley, “Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21,” Journal of Medical Genetics, vol. 33, no. 4, pp. 308–312, 1996.
- D. Audenaert, C. Van Broeckhoven, and P. De Jonghe, “Genes and loci involved in febrile seizures and related epilepsy syndromes,” Human Mutation, vol. 27, no. 5, pp. 391–401, 2006.
- J. M. Gunnersen, M. H. Kim, S. J. Fuller et al., “Sez-6 proteins affect dendritic arborisation patterns and excitability of cortical pyramidal neurons,” Neuron, vol. 56, no. 4, pp. 621–639, 2007.
- K. Shimizu-Nishikawa, K. Kajiwara, M. Kimura, M. Katsuk, and E. Sugays, “Cloning and expression of SEZ-6, a brain-specific and seizure-related cDNA,” Molecular Brain Research, vol. 28, no. 2, pp. 201–210, 1995.
- Z. Yu, J. Jiang, D. Wu et al., “Febrile seizures are associated with mutation of seizure-related (SEZ) 6, a brain-specific gene,” Journal of Neuroscience Research, vol. 85, no. 1, pp. 166–172, 2007.
- P. K. Duffner, P. H. Berman, R. J. Baumann et al., “Neurodiagnostic evaluation of the child with a simple febrile seizure,” Pediatrics, vol. 127, pp. 389–394, 2011.
- E. R. Mardis, “The impact of next-generation sequencing technology on genetics,” Trends in Genetics, vol. 24, no. 3, pp. 133–141, 2008.
- G. V. Kryukov, L. A. Pennacchio, and S. R. Sunyaev, “Most rare missense alleles are deleterious in humans: implications for complex disease and association studies,” American Journal of Human Genetics, vol. 80, no. 4, pp. 727–739, 2007.
- A. L. Price, G. V. Kryukov, P. I. de Bakker et al., “Pooled association tests for rare variants in exon-resequencing studies,” American Journal of Human Genetics, vol. 86, no. 6, pp. 832–838, 2010.
- J. C. Mulley, I. E. Scheffer, L. A. Harkin, S. F. Berkovic, and L. M. Dibbens, “Susceptibility genes for complex epilepsy,” Human Molecular Genetics, vol. 14, no. 2, pp. R243–R249, 2005.
- L. M. Dibbens, S. E. Heron, and J. C. Mulley, “A polygenic heterogeneity model for common epilepsies with complex genetics,” Genes, Brain and Behavior, vol. 6, no. 7, pp. 593–597, 2007.
- C. Waruiru and R. Appleton, “Febrile seizures: an update,” Archives of Disease in Childhood, vol. 89, no. 8, pp. 751–756, 2004.