DEPDC5 mutations in genetic focal epilepsies of childhood

• Published in: Annals of neurology Vol. 75; no. 5; pp. 788 - 792
• Main Authors: Lal, Dennis, Reinthaler, Eva M., Schubert, Julian, Muhle, Hiltrud, Riesch, Erik, Kluger, Gerhard, Jabbari, Kamel, Kawalia, Amit, Bäumel, Christine, Holthausen, Hans, Hahn, Andreas, Feucht, Martha, Neophytou, Birgit, Haberlandt, Edda, Becker, Felicitas, Altmüller, Janine, Thiele, Holger, Lemke, Johannes R., Lerche, Holger, Nürnberg, Peter, Sander, Thomas, Weber, Yvonne, Zimprich, Fritz, Neubauer, Bernd A.
• Format: Journal Article
• Language: English
• Published: United States Blackwell Publishing Ltd 01.05.2014; Wiley Subscription Services, Inc
• Subjects: Child; Child, Preschool; Epilepsies, Partial - diagnosis; Epilepsies, Partial - genetics; Epilepsy; Epilepsy, Rolandic - diagnosis; Epilepsy, Rolandic - genetics; Female; Genetic Variation - genetics; Humans; Intracellular Signaling Peptides and Proteins; Male; Mutation; Mutation - genetics; Pedigree; Phenotype; TOR Serine-Threonine Kinases - genetics
• ISSN: 0364-5134; 1531-8249
• DOI: 10.1002/ana.24127

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. Ann Neurol 2014;75:788–792