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https://hdl.handle.net/2440/92303
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Type: | Journal article |
Title: | Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations |
Author: | Scheffer, I. Heron, S. Regan, B. Mandelstam, S. Crompton, D. Hodgson, B. Licchetta, L. Provini, F. Bisulli, F. Vadlamudi, L. Gecz, J. Connelly, A. Tinuper, P. Ricos, M. Berkovic, S. Dibbens, L. |
Citation: | Annals of Neurology, 2014; 75(5):782-787 |
Publisher: | John Wiley and Sons |
Issue Date: | 2014 |
ISSN: | 0364-5134 1531-8249 |
Statement of Responsibility: | Ingrid E. Scheffer, Sarah E. Heron, Brigid M. Regan, Simone Mandelstam, Douglas E. Crompton, Bree L. Hodgson, Laura Licchetta, Francesca Bisulli, Lata Vadlamudi, Jozef Gecz, Alan Connelly, Paolo Tinuper, Michael G. Ricos, Samuel F. Berkovic and Leanne M. Dibbens |
Abstract: | We recently identified DEPDC5 as the gene for familial focal epilepsy with variable foci and found mutations in >10% of small families with nonlesional focal epilepsy. Here we show that DEPDC5 mutations are associated with both lesional and nonlesional epilepsies, even within the same family. DEPDC5-associated malformations include bottom-of-the-sulcus dysplasia (3 members from 2 families), and focal band heterotopia (1 individual). DEPDC5 negatively regulates the mammalian target of rapamycin (mTOR) pathway, which plays a key role in cell growth. The clinicoradiological phenotypes associated with DEPDC5 mutations share features with the archetypal mTORopathy, tuberous sclerosis, raising the possibility of therapies targeted to this pathway. |
Keywords: | Brain Humans Epilepsies, Partial GTPase-Activating Proteins Repressor Proteins Pedigree Mutation Adult Child Female Male Young Adult TOR Serine-Threonine Kinases |
Rights: | © 2014 American Neurological Association |
DOI: | 10.1002/ana.24126 |
Grant ID: | http://purl.org/au-research/grants/nhmrc/628952 http://purl.org/au-research/grants/nhmrc/1006110 http://purl.org/au-research/grants/nhmrc/1016715 http://purl.org/au-research/grants/nhmrc/1032603 http://purl.org/au-research/grants/arc/DP120100285 |
Published version: | http://dx.doi.org/10.1002/ana.24126 |
Appears in Collections: | Aurora harvest 2 Paediatrics publications |
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