Article
Mutations in DEPDC5 cause familial focal epilepsy with variable foci.
Nature genetics - 1 May 2013
Dibbens Leanne M, de Vries Boukje, Donatello Simona, Heron Sarah E, Hodgson Bree L, Chintawar Satyan, Crompton Douglas E, Hughes James N, Bellows Susannah T, Klein Karl Martin, Callenbach Petra M C, Corbett Mark A, Gardner Alison E, Kivity Sara, Iona Xenia, Regan Brigid M, Weller Claudia M, Crimmins Denis, O'Brien Terence J, Guerrero-López Rosa, Mulley John C, Dubeau Francois, Licchetta Laura, Bisulli Francesca, Cossette Patrick, Thomas Paul Q, Gecz Jozef, Serratosa Jose, Brouwer Oebele F, Andermann Frederick, Andermann Eva, van den Maagdenberg Arn M J M, Pandolfo Massimo, Berkovic Samuel F, Scheffer Ingrid E
Abstract excerpt
The majority of epilepsies are focal in origin, with seizures emanating from one brain region. Although focal epilepsies often arise from structural brain lesions, many affected individuals have normal brain imaging. The etiology is unknown in the majority of individuals, although genetic factors are increasingly recognized. Autosomal dominant familial focal epilepsy with variable foci (FFEVF) is notable because...
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