Familial focal epilepsy with focal cortical dysplasia due to <scp><i>DEPDC</i></scp><i>5</i> mutations

Baulac, Stéphanie; Ishida, Saeko; Marsan, Elise; Miquel, Catherine; Biraben, Arnaud; Khoa Nguyen, Dang; Nordli, Doug; Cossette, Patrick; Nguyen, Sylvie; Lambrecq, Virginie; Bustuchina ̆ Vlaicu, Mihaela; Daniau, Maïlys; Bielle, Franck; Andermann, Eva; Andermann, Frédérick; Leguern, Eric; Chassoux, Francine; Picard, Fabienne

doi:10.1002/ana.24368

Public

Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations

Published in Annals of Neurology • Jan 27, 2015

Authors:

Stéphanie Baulac

Saeko Ishida

Elise Marsan

Abstract

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 fr...

Subject

Cortical dysplasia

Epilepsy

Medicine

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