Please use this identifier to cite or link to this item:
Scopus Web of Science® Altmetric
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
Statement of
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
Epilepsies, Partial
GTPase-Activating Proteins
Repressor Proteins
Young Adult
TOR Serine-Threonine Kinases
Rights: © 2014 American Neurological Association
DOI: 10.1002/ana.24126
Grant ID:
Published version:
Appears in Collections:Aurora harvest 2
Paediatrics publications

Files in This Item:
There are no files associated with this item.

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.