Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC 5-Reference-Cited by-同舟云学术

Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC 5

Published:2015-03-12 Issue:5 Volume:2 Page:575-580
ISSN:2328-9503
Container-title:Annals of Clinical and Translational Neurology
language:en
Short-container-title:Ann Clin Transl Neurol

Author:

Scerri Thomas¹,Riseley Jessica R.²,Gillies Greta²,Pope Kate²,Burgess Rosemary³⁴,Mandelstam Simone A.³⁵⁶,Dibbens Leanne⁷⁸,Chow Chung W.⁹¹⁰,Maixner Wirginia¹¹¹²,Harvey Anthony Simon³⁹¹²¹³,Jackson Graeme D.³⁴,Amor David J.²⁹,Delatycki Martin B.²⁹¹⁴,Crino Peter B.¹⁵,Berkovic Samuel F.³⁴,Scheffer Ingrid E.³⁴⁹¹³,Bahlo Melanie¹,Lockhart Paul J.²⁹,Leventer Richard J.⁹¹²¹³

Affiliation:

1. Bioinformatics Division The Walter and Eliza Hall Institute of Medical Research 1G Royal Parade Parkville Victoria Australia

2. Bruce Lefroy Centre for Genetic Health Research Murdoch Childrens Research Institute Parkville Victoria Australia

3. The Florey Institute of Neuroscience and Mental Health Melbourne Australia

4. Epilepsy Research Centre University of Melbourne, Austin Health Melbourne Australia

5. Department of Radiology Royal Children's Hospital Melbourne Australia

6. Department of Radiology University of Melbourne Melbourne Australia

7. Epilepsy Research Program School of Pharmacy and Medical Sciences University of South Australia Adelaide Australia

8. Sansom Institute for Health Research University of South Australia Adelaide Australia

9. Department of Pediatrics University of Melbourne Melbourne Australia

10. Department of Anatomical Pathology Royal Children's Hospital Melbourne Australia

11. Department of Neurosurgery Royal Children's Hospital Melbourne Australia

12. Murdoch Childrens Research Institute Melbourne Australia

13. Department of Neurology Royal Children's Hospital Melbourne Australia

14. Clinical Genetics Austin Health Melbourne Australia

15. Shriners Hospital Pediatric Research Center Temple University Philadelphia Pennsylvania

Funder

Victorian Government's Operational Infrastructure Support Program

Australian Government NHMRC IRIISS

National Health and Medical Research Council of Australia

Murdoch Childrens Research Institute

Campbell Edwards Trust

ARC Future Fellowship

NHMRC Career Development Fellowship

Publisher

Wiley

Subject

Clinical Neurology,General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.191

Reference20 articles.

1. The clinicopathologic spectrum of focal cortical dysplasias: A consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission1

2. Is focal cortical dysplasia sporadic? Family evidence for genetic susceptibility

3. Mutations in mammalian target of rapamycin regulatorDEPDC5cause focal epilepsy with brain malformations

4. Mutations in DEPDC5 cause familial focal epilepsy with variable foci

5. Mutations of DEPDC5 cause autosomal dominant focal epilepsies

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