title: Two definite cases of sudden unexpected death in epilepsy in a family with a DEPDC5 mutation.
abstract: The DEPDC5 gene (OMIM #614191), mapped to 22q12.2-q12.3, encodes the DEP domain-containing protein 5. DEPDC5 has been associated with a variety of familial epilepsies, including familial focal epilepsy with variable foci, autosomal dominant nocturnal frontal lobe epilepsy, familial temporal lobe epilepsy, epileptic spasms, and cortical dysplasia.(1-4) Notably, DEPDC5 has never been linked to increased risk of sudden unexpected death in epilepsy (SUDEP). We report a family with epilepsy due to DEPDC5 mutation and 2 definite cases of SUDEP within this family.
authors.affiliation: Division of Neurology (F.A.N., F.B., D.M.A.), Epilepsy Genetics Program, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Ontario, Canada; CHUM Research Center (P.C.), University of Montreal, Quebec, Canada; and Division of Neurology (B.A.M., D.M.A.), Program in Genetics and Genome Biology, The Hospital for Sick Children, University of Toronto, Ontario, Canada.
authors.forename: Fábio A
authors.initials: FA
authors.lastname: Nascimento
authors.affiliation: Division of Neurology (F.A.N., F.B., D.M.A.), Epilepsy Genetics Program, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Ontario, Canada; CHUM Research Center (P.C.), University of Montreal, Quebec, Canada; and Division of Neurology (B.A.M., D.M.A.), Program in Genetics and Genome Biology, The Hospital for Sick Children, University of Toronto, Ontario, Canada.
authors.forename: Felippe
authors.initials: F
authors.lastname: Borlot
authors.affiliation: Division of Neurology (F.A.N., F.B., D.M.A.), Epilepsy Genetics Program, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Ontario, Canada; CHUM Research Center (P.C.), University of Montreal, Quebec, Canada; and Division of Neurology (B.A.M., D.M.A.), Program in Genetics and Genome Biology, The Hospital for Sick Children, University of Toronto, Ontario, Canada.
authors.forename: Patrick
authors.initials: P
authors.lastname: Cossette
authors.affiliation: Division of Neurology (F.A.N., F.B., D.M.A.), Epilepsy Genetics Program, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Ontario, Canada; CHUM Research Center (P.C.), University of Montreal, Quebec, Canada; and Division of Neurology (B.A.M., D.M.A.), Program in Genetics and Genome Biology, The Hospital for Sick Children, University of Toronto, Ontario, Canada.
authors.forename: Berge A
authors.initials: BA
authors.lastname: Minassian
authors.affiliation: Division of Neurology (F.A.N., F.B., D.M.A.), Epilepsy Genetics Program, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Ontario, Canada; CHUM Research Center (P.C.), University of Montreal, Quebec, Canada; and Division of Neurology (B.A.M., D.M.A.), Program in Genetics and Genome Biology, The Hospital for Sick Children, University of Toronto, Ontario, Canada.
authors.forename: Danielle M
authors.initials: DM
authors.lastname: Andrade