Mutations in DEPDC5 cause familial focal epilepsy with variable foci Dibbens, Leanne M., de Vries, Boukje, Donatello, Simona, Heron, Sarah E., Hodgson, Bree L., Chintawar, Satyan, Crompton, Douglas E., Hughes, James N., Bellows, Susannah, Klein, Karl Martin, Callenbach, Petra M. C., Corbett, Mark A., Gardner, Alison E., Kivity, Sara, Iona, Xenia, Regan, Brigid M., Weller, Claudia M., Crimmins, Denis, O'Brien, Terence J., Guerrero-López, Rosa, Mulley, John C., Dubeau, Francois, Licchetta, Laura, Bisulli, Francesca, Cossette, Patrick, Thomas, Paul Q., Gecz, Jozef, Serratosa, Jose, Brouwer, Oebele F., Andermann, Frederick, Andermann, Eva, van den Maagdenberg, Arn M. J. M., Pandolfo, Massimo, Berkovic, Samuel F. and Scheffer, Ingrid E. 2013, Mutations in DEPDC5 cause familial focal epilepsy with variable foci, Nature genetics, vol. 45, no. 5, pp. 546-551, doi: 10.1038/ng.2599. Attached Files Name Description MIMEType Size Downloads Title Mutations in DEPDC5 cause familial focal epilepsy with variable foci Author(s) Dibbens, Leanne M. de Vries, Boukje Donatello, Simona Heron, Sarah E. Hodgson, Bree L. Chintawar, Satyan Crompton, Douglas E. Hughes, James N. Bellows, Susannah Klein, Karl Martin Callenbach, Petra M. C. Corbett, Mark A. Gardner, Alison E. Kivity, Sara Iona, Xenia Regan, Brigid M. Weller, Claudia M. Crimmins, Denis O'Brien, Terence J. Guerrero-López, Rosa Mulley, John C. Dubeau, Francois Licchetta, Laura Bisulli, Francesca Cossette, Patrick Thomas, Paul Q. Gecz, Jozef Serratosa, Jose Brouwer, Oebele F. Andermann, Frederick Andermann, Eva van den Maagdenberg, Arn M. J. M. Pandolfo, Massimo Berkovic, Samuel F. Scheffer, Ingrid E. Journal name Nature genetics Volume number 45 Issue number 5 Start page 546 End page 551 Total pages 6 Publisher Nature Publishing Group Place of publication London, Eng. Publication date 2013-05 ISSN 1546-1718 Keyword(s) Adolescent Adult Animals Case-Control Studies Cells, Cultured Child Child, Preschool Cohort Studies Computational Biology Epilepsies, Partial Exome Female Fluorescent Antibody Technique Genetic Linkage Genetic Predisposition to Disease Genotype Guanine Nucleotide Exchange Factors Humans Infant Male Mice Middle Aged Mutation Neurons Pedigree Pluripotent Stem Cells Repressor Proteins Young Adult Science & Technology Life Sciences & Biomedicine Genetics & Heredity CHROMOSOME 22Q12 GENERALIZED EPILEPSY LOBE EPILEPSY LINKAGE MEMBRANE CELLS SUGGESTION SEIZURES DOMAINS COMPLEX Language eng DOI 10.1038/ng.2599 Field of Research 11 Medical And Health Sciences 06 Biological Sciences HERDC Research category C1.1 Refereed article in a scholarly journal Copyright notice ©2013, Nature America Persistent URL http://hdl.handle.net/10536/DRO/DU:30110653 Document type: Journal Article Collections: Faculty of Health School of Psychology Related Links Link Description Connect to published version Go to link with your DU access privileges     Unless expressly stated otherwise, the copyright for items in DRO is owned by the author, with all rights reserved. Versions Version Filter Type Tue, 10 Jul 2018, 10:01:23 EST Tue, 10 Jul 2018, 11:15:31 EST Tue, 10 Jul 2018, 11:28:52 EST Tue, 17 Jul 2018, 06:08:45 EST Tue, 17 Jul 2018, 09:46:30 EST Tue, 17 Jul 2018, 09:52:09 EST Filtered Full Citation counts:   Cited 183 times in TR Web of Science Cited 195 times in Scopus Search Google Scholar Access Statistics: 216 Abstract Views, 0 File Downloads  -  Detailed Statistics Created: Tue, 10 Jul 2018, 10:01:23 EST

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