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.

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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
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