Article
Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations.
Annals of neurology - 1 Apr 2015
Baulac Stéphanie, Ishida Saeko, Marsan Elise, Miquel Catherine, Biraben Arnaud, Nguyen Dang Khoa, Nordli Doug, Cossette Patrick, Nguyen Sylvie, Lambrecq Virginie, Vlaicu Mihaela, Daniau Maïlys, Bielle Franck, Andermann Eva, Andermann Frederick, Leguern Eric, Chassoux Francine, Picard Fabienne
Abstract excerpt
OBJECTIVE: The DEPDC5 (DEP domain-containing protein 5) gene, encoding a repressor of the mTORC1 signaling pathway, has recently emerged as a major gene mutated in familial focal epilepsies. We aimed to further extend the role of DEPDC5 to focal cortical dysplasias (FCDs). METHODS: Seven patients from 4 families with DEPDC5 mutations and focal epilepsy associated with FCD were recruited and investigated at the...
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