2,175 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
Ingrid Ylva och tornet i Bjälbo
No full textThe article discusses the background to the erection of the huge church tower in Bjälbo, Östergötland, Sweden. It also focuses on medieval women as founders of churches. The author maintains that new dendrochronological dating of the tower could mean that founder of this building piece was not one of the male members of the important Bjälbo dynasty, but Ingrid Ylva the mother of Birger Jarl
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
Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX
No full textClinical data from 50 mentally retarded (MR) males in nine X-linked MR families, syndromic and non-specific, with mutations (duplication, expansion, missense, and deletion mutations) in the Aristaless related homeobox gene, ARX, were analysed. Seizures were observed with all mutations and occurred in 29 patients, including one family with a novel myoclonic epilepsy syndrome associated with the missense mutation. Seventeen patients had infantile spasms. Other phenotypes included mild to moderate MR alone, or with combinations of dystonia, ataxia or autism. These data suggest that mutations in the ARX gene are important causes of MR, often associated with diverse neurological manifestations.Strømme, Petter ; Mangelsdorf, Marie E ; Scheffer, Ingrid E ; Gécz, Joze
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
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
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
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
Ingrid Winterbach: Novelist (Interview)
No full textWinner of the prestigious Hertzog Prize for Literature for Niggie (2002)Ingrid Winterbach is the author of eight novels, three of which have been translated into English and two into Dutch. The translation of her fourth novel, Karolina Ferreira (1993) as The Elusive Moth (2005), and subsequently, Niggie as To Hell with Cronjé (2007) and Die boek van toeval en toeverlaat (2006) as The Book of Happenstance (2008), have brought this author to the attention of a wider South African readership
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
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