CRIS Current Research Information System
IRIS è la soluzione IT che facilita la raccolta e la gestione dei dati relativi alle attività e ai prodotti della ricerca. Fornisce a ricercatori, amministratori e valutatori gli strumenti per monitorare i risultati della ricerca, aumentarne la visibilità e allocare in modo efficace le risorse disponibili.
EnglishWe 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.
| Titolo: | Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations | |
| Autore/i: | Scheffer, Ingrid E; Heron, Sarah E; Regan, Brigid M; Mandelstam, Simone; 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. | |
| Autore/i Unibo: | ||
| Anno: | 2014 | |
| Rivista: | ||
| Digital Object Identifier (DOI): | http://dx.doi.org/10.1002/ana.24126 | |
| 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. | |
| Data stato definitivo: | 2015-09-14T11:38:27Z | |
| Appare nelle tipologie: | 1.01 Articolo in rivista |
File in questo prodotto:
Copyright © 2022