Article
DEPDC5 mutations in genetic focal epilepsies of childhood.
Annals of neurology - 1 May 2014
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
Abstract excerpt
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...
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