DEPDC5 mutations in genetic focal epilepsies of childhood

Item Type:	Article
Title:	DEPDC5 mutations in genetic focal epilepsies of childhood
Creators Name:	Lal, D. and Reinthaler, E.M. and Schubert, J. and Muhle, H. and Riesch, E. and Kluger, G. and Jabbari, K. and Kawalia, A. and Bäumel, C. and Holthausen, H. and Hahn, A. and Feucht, M. and Neophytou, B. and Haberlandt, E. and Becker, F. and Altmüller, J. and Thiele, H. and Lemke, J.R. and Lerche, H. and Nürnberg, P. and Sander, T. and Weber, Y. and Zimprich, F. and Neubauer, B.A.
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.
Keywords:	Genetic Variation, Intracellular Signaling Peptides and Proteins, Mutation, Partial Epilepsies, Pedigree, Phenotype, Rolandic Epilepsy, TOR Serine-Threonine Kinases
Source:	Annals of Neurology
ISSN:	0364-5134
Publisher:	Wiley
Volume:	75
Number:	5
Page Range:	788-792
Date:	May 2014
Official Publication:	https://doi.org/10.1002/ana.24127
PubMed:	View item in PubMed

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