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|Title:||Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations.|
|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; Florey Institute of Neuroscience and Mental Health, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Australia.|
|Citation:||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.|
|Internal ID Number:||24585383|
TOR Serine-Threonine Kinases.genetics
|Appears in Collections:||Journal articles|
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