Article
Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations.
Annals of neurology - 1 May 2014
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
Abstract excerpt
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...
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