1,721,415 research outputs found
Association studies and functional validation or functional validation alone?
No full textSarah E. Heron, Louisa Sanchez, Ingrid E. Scheffer, Samuel F. Berkovic, John C. Mulle
Epilepsy in families
No full textA/Pr Samuel F Berkovic$AUD 162,902.22NHMRC Project GrantsStandard Project Gran
Do mutations in SCN1B cause Dravet syndrome?
No full textAvailable online 20 November 2012Abstract not availableYoung Ok Kim, Leanne Dibbens, Carla Marini, Arvid Suls, Nicole Chemaly, Davide Mei, Jacinta M. McMahon, Xenia Iona, Samuel F. Berkovic, Peter De Jonghe, Renzo Guerrini, Rima Nabbout, Ingrid E. Scheffe
Febrile infection-related epilepsy syndrome is not caused by SCN1A mutations
No full textAbstract not availableDaniel Carranza Rojo, A. Simon Harvey, Xenia Iona, Leanne M. Dibbens, John A. Damiano, Todor Arsov, Deepak Gill, Jeremy L. Freeman, Richard J. Leventer, Angela Vincent, Samuel F. Berkovic, Jacinta M. McMahon, Ingrid E. Scheffe
Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?
No full textAbstract not availableKristin A. Rigbye, Peter M. van Hasselt, Rosemary Burgess, John A. Damiano, Saul A. Mullen, Slavé Petrovski, Ram S. Puranam, Koen L.I. van Gassen, Jozef Gecz, Ingrid E. Scheffer, James O. McNamara, Samuel F. Berkovic, Michael S. Hildebran
Is photosensitive epilepsy less common in males due to variation in X chromosome photopigment genes?
No full textThe definitive version is available at www.blackwell-synergy.comSummary: Photosensitive epilepsy is less frequent among males than females. Red is the most epileptogenic color. The X-linked red pigment gene contains the polymorphism Ser180Ala; the Ser180 allele increases red sensitivity. We hypothesized that the paucity of males with photosensitive epilepsy is explained by the distribution of this sex-linked allele, and predicted photosensitive males would have a low frequency of this allele. We genotyped 35 males with photosensitive epilepsy and 84 male controls. Allele frequencies did not differ between these groups. The hypothesis was not supported, so alternate reasons for the sex bias in photosensitive epilepsy must be sought.Isabella Taylor, Bree Hodgson, Ingrid E. Scheffer, John Mulley, Samuel F. Berkovic, Leanne Dibben
sj-pdf-1-anp-10.1177_00048674211058684 – Supplemental material for Plasma neurofilament light chain protein is not increased in treatment-resistant schizophrenia and first-degree relatives
No full textSupplemental material, sj-pdf-1-anp-10.1177_00048674211058684 for Plasma neurofilament light chain protein is not increased in treatment-resistant schizophrenia and first-degree relatives by Dhamidhu Eratne, Shorena Janelidze, Charles B Malpas, Samantha Loi, Mark Walterfang, Antonia Merritt, Ibrahima Diouf, Kaj Blennow, Henrik Zetterberg, Brandon Cilia, Cassandra Wannan, Chad Bousman, Ian Everall, Andrew Zalesky, Mahesh Jayaram, Naveen Thomas, Samuel F Berkovic, Oskar Hansson, Dennis Velakoulis, Christos Pantelis and Alexander Santillo in Australian & New Zealand Journal of Psychiatry</p
Investigation of the 15q13.3 CNV as a genetic modifier for familial epilepsies with variable phenotypes
No full textIncomplete penetrance and variable phenotypic expression are characteristic of a number of syndromes of familial epilepsy. The purpose of the present investigation is to determine if the 15q13.3 copy number deletion functions as a locus modifying the epilepsy phenotype caused by other known or presumed pathogenic mutations segregating in families with epilepsies. No 15q13.3 microdeletions were detected in 756 affected or definite obligate carrier individuals across 151 families selected on the basis of having multiple members affected with epilepsy and showing a range of seizure types. Therefore, the 15q13.3 microdeletion does not act as a genetic modifier in this cohort of families and is not responsible for any of the genetic heterogeneity hypothesized to account for failure to detect linkage in previous genome-wide scans in five of the larger families included in this study.John C. Mulley, Ingrid E. Scheffer, Tarishi Desai, Marta A. Bayly, Bronwyn E. Grinton, Danya F. Vears, Samuel F. Berkovic, and Leanne M. Dibben
Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations
No full textAvailable online 8 June 2017Abstract not availableMark A. Corbett, Samantha J. Turner, Alison Gardner, Jeremy Silver, Jim Stankovich, Richard J. Leventer, Christopher P. Derry Renée Carroll, Thuong Ha, Ingrid E. Scheffer, Melanie Bahlo, Graeme D. Jackson, David A. Mackey, Samuel F. Berkovic, Jozef Gec
- …
