1,721,448 research outputs found
Mutant GABAA receptor g2-subunit in childhood absence epilepsy and febrile seizures
No full textCopyright © 2001 Nature Publishing GroupRobyn H. Wallace, Carla Marini, Steven Petrou, Louise A. Harkin, David N. Bowser, Rekha G. Pancha, David A. Williams, Grant R. Sutherland, John C. Mulley, Ingrid E. Scheffer & Samuel F. Berkovi
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
A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts
No full textAbstract not availableThuong T. Ha, Lynette G. Sadleir, Simone A. Mandelstam, Sarah J. Paterson, Ingrid E. Scheffer, Jozef Gecz and Mark A. Corbet
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
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
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
Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsy
No full textAvailable online 9 September 2015Abstract not availableJohn A. Damiano, Saul A. Mullen, Michael S. Hildebrand, Susannah T. Bellows, Kate M. Lawrence, Todor Arsov, Leanne Dibbens, Heather Major, Hans-Henrik M. Dahl, Heather C. Mefford, Benjamin W. Darbro, Ingrid E. Scheffer, Samuel F. Berkovi
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
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