Please use this identifier to cite or link to this item: http://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; Repressor Proteins; Pedigree; Mutation; Adult; Child; Female; Male; Young Adult; TOR Serine-Threonine Kinases
Rights: © 2014 American Neurological Association
RMID: 0030009005
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
Appears in Collections:Paediatrics publications

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