title: DEPDC5 mutations in genetic focal epilepsies of childhood.
abstract: Recent studies reported DEPDC5 loss-of-function mutations in different focal epilepsy syndromes. Here we identified 1 predicted truncation and 2 missense mutations in 3 children with rolandic epilepsy (3 of 207). In addition, we identified 3 families with unclassified focal childhood epilepsies carrying predicted truncating DEPDC5 mutations (3 of 82). The detected variants were all novel, inherited, and present in all tested affected (n=11) and in 7 unaffected family members, indicating low penetrance. Our findings extend the phenotypic spectrum associated with mutations in DEPDC5 and suggest that rolandic epilepsy, albeit rarely, and other nonlesional childhood epilepsies are among the associated syndromes.
authors.affiliation: Cologne Center for Genomics, University of Cologne, Cologne, Germany; Department of Neuropediatrics, University Medical Center Giessen and Marburg, Giessen, Germany; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, Cologne, Germany.
authors.forename: Dennis
authors.initials: D
authors.lastname: Lal
authors.forename: Eva M
authors.initials: EM
authors.lastname: Reinthaler
authors.forename: Julian
authors.initials: J
authors.lastname: Schubert
authors.forename: Hiltrud
authors.initials: H
authors.lastname: Muhle
authors.forename: Erik
authors.initials: E
authors.lastname: Riesch
authors.forename: Gerhard
authors.initials: G
authors.lastname: Kluger
authors.forename: Kamel
authors.initials: K
authors.lastname: Jabbari
authors.forename: Amit
authors.initials: A
authors.lastname: Kawalia
authors.forename: Christine
authors.initials: C
authors.lastname: Bäumel
authors.forename: Hans
authors.initials: H
authors.lastname: Holthausen
authors.forename: Andreas
authors.initials: A
authors.lastname: Hahn
authors.forename: Martha
authors.initials: M
authors.lastname: Feucht
authors.forename: Birgit
authors.initials: B
authors.lastname: Neophytou
authors.forename: Edda
authors.initials: E
authors.lastname: Haberlandt
authors.forename: Felicitas
authors.initials: F
authors.lastname: Becker
authors.forename: Janine
authors.initials: J
authors.lastname: Altmüller
authors.forename: Holger
authors.initials: H
authors.lastname: Thiele
authors.forename: Johannes R
authors.initials: JR
authors.lastname: Lemke
authors.forename: Holger
authors.initials: H
authors.lastname: Lerche
authors.forename: Peter
authors.initials: P
authors.lastname: Nürnberg
authors.forename: Thomas
authors.initials: T
authors.lastname: Sander
authors.forename: Yvonne
authors.initials: Y
authors.lastname: Weber
authors.forename: Fritz
authors.initials: F
authors.lastname: Zimprich
authors.forename: Bernd A
authors.initials: BA
authors.lastname: Neubauer
mesh_terms: D002648:Child; D002675:Child, Preschool; D004828:Epilepsies, Partial / Q000175:diagnosis / Q000235:genetics*; D019305:Epilepsy, Rolandic / Q000175:diagnosis / Q000235:genetics; D005260:Female; D014644:Genetic Variation / Q000235:genetics; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D058570:TOR Serine-Threonine Kinases / Q000235:genetics*
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C556139:DEPTOR protein, human; C546842:MTOR protein, human; D058570:TOR Serine-Threonine Kinases