Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/12101
Title: Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations.
Austin Authors: Scheffer, Ingrid E ;Heron, Sarah E;Regan, Brigid M;Mandelstam, Simone A;Crompton, Douglas E;Hodgson, Bree L;Licchetta, Laura;Provini, Federica;Bisulli, Francesca;Vadlamudi, Lata;Gecz, Jozef;Connelly, Alan;Tinuper, Paolo;Ricos, Michael G;Berkovic, Samuel F ;Dibbens, Leanne M
Affiliation: Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia
Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Australia
Florey Institute of Neuroscience and Mental Health, Melbourne, Australia
Issue Date: 14-Apr-2014
Publication information: Annals of Neurology 2014; 75(5): 782-7
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.
Gov't Doc #: 24585383
URI: http://ahro.austin.org.au/austinjspui/handle/1/12101
DOI: 10.1002/ana.24126
URL: https://pubmed.ncbi.nlm.nih.gov/24585383
Type: Journal Article
Subjects: Adult
Brain.abnormalities
Child
Epilepsies, Partial.diagnosis.genetics
Female
Humans
Male
Mutation.genetics
Pedigree
Repressor Proteins.genetics
TOR Serine-Threonine Kinases.genetics
Young Adult
Appears in Collections:Journal articles

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