DEPDC5 mutations in genetic focal epilepsies of childhood. Issue 5 (14th April 2014)

• Record Type: Journal Article
• 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.
• Is Part Of: Annals of neurology. Volume 75:Issue 5(2014:May)
• Page Start: 788
• Page End: 792
• Publication Date: 2014-04-14
• Subjects: Neurology -- Periodicals; Pediatric neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; 616.8
• DOI: 10.1002/ana.24127
• Languages: English
• ISSNs: 0364-5134

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Recent studies reported <italic>DEPDC5</italic> 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 <italic>DEPDC5</italic> 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 <italic>DEPDC5</italic> and suggest that rolandic epilepsy, albeit rarely, and other nonlesional childhood epilepsies are among the associated syndromes. Ann Neurol 2014;75:788–792</p> </abstract>