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<title lang=en>Mutations of DEPDC5 cause autosomal dominant focal epilepsies</title>
<creator>Ishida, Saeko</creator>
<creator>Picard, Fabienne</creator>
<creator>Rudolf, Gabrielle</creator>
<creator>Noe, Eric</creator>
<creator>Achaz, Guillaume</creator>
<creator>Thomas, Pierre</creator>
<creator>Genton, Pierre</creator>
<creator>Mundwiller, Emeline</creator>
<creator>Wolff, Markus</creator>
<creator>Marescaux, Christian</creator>
<creator>Miles, Richard</creator>
<creator>Baulac, Michel</creator>
<creator>Hirsch, Edouard</creator>
<creator>Leguern, Eric</creator>
<creator>Baulac, Stephanie</creator>
<contributor>Evolution des Génomes Eucaryotes (EGE) ; Systématique, adaptation, évolution (SAE) ; Université Pierre et Marie Curie - Paris 6 (UPMC) - Centre National de la Recherche Scientifique (CNRS) - Université Pierre et Marie Curie - Paris 6 (UPMC) - Centre National de la Recherche Scientifique (CNRS) - Evolution Paris Seine ; Université Nice Sophia Antipolis (UNS) ; Université Côte d'Azur (UCA) - Université Côte d'Azur (UCA) - Centre National de la Recherche Scientifique (CNRS) - Université des Antilles et de la Guyane (UAG) - Université Pierre et Marie Curie - Paris 6 (UPMC) - Université Nice Sophia Antipolis (UNS) ; Université Côte d'Azur (UCA) - Université Côte d'Azur (UCA) - Université des Antilles et de la Guyane (UAG)</contributor>
<contributor>French government</contributor>
<contributor> program Investissements d'Avenir [ANR-10-IAIHU-06]</contributor>
<description>International audience</description>
<source>ISSN: 1061-4036</source>
<source>EISSN: 1546-1718</source>
<source>Nature Genetics</source>
<publisher>Nature Publishing Group</publisher>
<identifier>hal-01544763</identifier>
<identifier>https://hal.archives-ouvertes.fr/hal-01544763</identifier>
<source>https://hal.archives-ouvertes.fr/hal-01544763</source>
<source>Nature Genetics, Nature Publishing Group, 2013, 45 (5), pp.552-U128. 〈10.1038/ng.2601〉</source>
<identifier>DOI : 10.1038/ng.2601</identifier>
<relation>info:eu-repo/semantics/altIdentifier/doi/10.1038/ng.2601</relation>
<language>en</language>
<subject>[SDV.BID] Life Sciences [q-bio]/Biodiversity</subject>
<type>info:eu-repo/semantics/article</type>
<type>Journal articles</type>
<description lang=en>The main familial focal epilepsies are autosomal dominant nocturnal frontal lobe epilepsy, familial temporal lobe epilepsy and familial focal epilepsy with variable foci. A frameshift mutation in the DEPDC5 gene (encoding DEP domain-containing protein 5) was identified in a family with focal epilepsy with variable foci by linkage analysis and exome sequencing. Subsequent pyrosequencing of DEPDC5 in a cohort of 15 additional families with focal epilepsies identified 4 nonsense mutations and 1 missense mutation. Our findings provided evidence of frequent (37%) loss-of-function mutations in DEPDC5 associated with a broad spectrum of focal epilepsies. The implication of a DEP (Dishevelled, Egl-10 and Pleckstrin) domain-containing protein that may be involved in membrane trafficking and/or G protein signaling opens new avenues for research.</description>
<date>2013-05</date>
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