707 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
Pathogenic Evaluation of Recalcitrant Variants through Systematic Transactivation
No full textOral Presentation - S16.2Jozef Gecz, Emmylou Nicolas, Mark Corbett, Tarin Ritchie, Ingrid Scheffer, Samuel Berkovic, Michael Hildebrand, John Grigg, Sandra Cooper, Christian Pflueger, Ryan Lister and Lachlan Joll
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
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy
No full textData source: Supplementary information, http://www.nature.com/ng/journal/v44/n11/full/ng.2440.html#supplementary-informationWe performed genomic mapping of a family with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) and intellectual and psychiatric problems, identifying a disease-associated region on chromosome 9q34.3. Whole-exome sequencing identified a mutation in KCNT1, encoding a sodium-gated potassium channel subunit. KCNT1 mutations were identified in two additional families and a sporadic case with severe ADNFLE and psychiatric features. These findings implicate the sodium-gated potassium channel complex in ADNFLE and, more broadly, in the pathogenesis of focal epilepsies.Sarah E Heron, Katherine R Smith, Melanie Bahlo, Lino Nobili, Esther Kahana, Laura Licchetta, Karen L Oliver, Aziz Mazarib, Zaid Afawi, Amos Korczyn, Giuseppe Plazzi, Steven Petrou, Samuel F Berkovic, Ingrid E Scheffer, Leanne M Dibben
A case of severe hearing loss in action myoclonus renal failure syndrome resulting from mutation in SCARB2
No full textFil: Perandones, Claudia. ANLIS Dr. C. G. Malbrán; Argentina.Fil: Micheli, Federico E. ANLIS Dr. C. G. Malbrán; Argentina.Fil: Pellene, Luis A. Universidad de Buenos Aires. Hospital de Clínicas José de San Martín. Programa de Parkinson y Movimientos Anormales; Argentina.Fil: Bayly, Marta A. University of South Australia. School of Pharmacy and Medical Sciences; Australia.Fil: Berkovic, Samuel F. University of Melbourne. Epilepsy Research Center and Department of Medicine; Australia.Fil: Dibbens, Leanne M. University of South Australia. School of Pharmacy and Medical Sciences; Australia
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
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 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
Epilepsy in families
No full textA/Pr Samuel F Berkovic$AUD 162,902.22NHMRC Project GrantsStandard Project Gran
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