DEPDC5mutations in genetic focal epilepsies of childhood-Reference-Cited by-同舟云学术

DEPDC5mutations in genetic focal epilepsies of childhood

Published:2014-04-14 Issue:5 Volume:75 Page:788-792
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Lal Dennis¹²³,Reinthaler Eva M.⁴,Schubert Julian⁵⁶,Muhle Hiltrud⁷,Riesch Erik⁸,Kluger Gerhard⁸,Jabbari Kamel¹,Kawalia Amit¹,Bäumel Christine⁹,Holthausen Hans⁹,Hahn Andreas²,Feucht Martha¹⁰,Neophytou Birgit¹¹,Haberlandt Edda¹²,Becker Felicitas⁵,Altmüller Janine¹,Thiele Holger¹¹³,Lemke Johannes R.¹⁴,Lerche Holger⁵,Nürnberg Peter¹³¹⁵,Sander Thomas¹,Weber Yvonne⁵,Zimprich Fritz⁴,Neubauer Bernd A.²

Affiliation:

1. Cologne Center for Genomics; University of Cologne; Cologne Germany

2. Department of Neuropediatrics; University Medical Center Giessen and Marburg; Giessen Germany

3. Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases; University of Cologne; Cologne Germany

4. Department of Neurology; Medical University of Vienna; Vienna Austria

5. Department of Neurology and Epileptology; Hertie Institute of Clinical Brain Research, University of Tübingen; Tübingen Germany

6. Graduate School of Cellular and Molecular Neuroscience; University of Tübingen; Tübingen Germany

7. Department of Neuropediatrics; University Medical Center Schleswig-Holstein (Kiel Campus); Kiel Germany

8. CeGaT GmbH; Tübingen Germany

9. Department of Neuropediatrics and Neurorehabilitation; Epilepsy Center for Children and Adolescents, Schoen Clinic Vogtareuth; Vogtareuth Germany

10. Department of Pediatrics and Neonatology; Medical University of Vienna; Vienna Austria

11. St Anna Children's Hospital; Department of Neuropediatrics; Vienna Austria

12. Department of Pediatrics; Medical University of Innsbruck; Innsbruck Austria

13. EuroEPINOMICS Consortium

14. Division of Human Genetics; University Children's Hospital Inselspital; Bern Switzerland

15. Center for Molecular Medicine Cologne; University of Cologne; Cologne Germany

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Reference15 articles.

1. Mutations in DEPDC5 cause familial focal epilepsy with variable foci;Dibbens;Nat Genet,2013

2. Mutations of DEPDC5 cause autosomal dominant focal epilepsies;Ishida;Nat Genet,2013

3. A recurrent mutation in DEPDC5 predisposes to focal epilepsies in the French-Canadian population;Martin;Clin Genet

4. A tumor suppressor complex with GAP activity for the Rag GTPases that signal amino acid sufficiency to mTORC1;Bar-Peled;Science,2013

5. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009;Berg;Epilepsia,2010

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