Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy-Reference-Cited by-同舟云学术

Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy

Published:2020-03-12 Issue:4 Volume:61 Page:
ISSN:0013-9580
Container-title:Epilepsia
language:en
Short-container-title:Epilepsia

Author:

Sadleir Lynette G.¹^ORCID,de Valles‐Ibáñez Guillem¹^ORCID,King Chontelle¹,Coleman Matthew²,Mossman Stuart³,Paterson Sarah¹,Nguyen John⁴,Berkovic Samuel F.²^ORCID,Mullen Saul²,Bahlo Melanie⁵⁶^ORCID,Hildebrand Michael S.²⁷,Mefford Heather C.⁴,Scheffer Ingrid E.²⁷⁸⁹

Affiliation:

1. Department of Paediatrics and Child Health University of Otago Wellington New Zealand

2. Department of Medicine Epilepsy Research Centre Austin Health University of Melbourne Melbourne Victoria Australia

3. Department of Neurology Wellington Hospital Capital and Coast District Health Board Wellington New Zealand

4. Division of Genetic Medicine Department of Pediatrics University of Washington Seattle Washington

5. Population Health and Immunity Division Walter and Eliza Hall Institute of Medical Research Parkville Victoria Australia

6. Department of Medical Biology University of Melbourne Parkville Victoria Australia

7. Murdoch Children’s Research Institute Parkville Victoria Australia

8. Florey Institute of Neuroscience and Mental Health Melbourne Victoria Australia

9. Departments of Paediatrics Austin Health and Royal Children's Hospital University of Melbourne Melbourne Victoria Australia

Funder

Health Research Council of New Zealand

National Institute of Neurological Disorders and Stroke

Cure Kids New Zealand

National Health and Medical Research Council

Ted and Mollie Carr Endowment Trust

Victorian Government's Operational Infrastructure Support Program

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/epi.16475

Reference18 articles.

1. A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features

2. Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy

4. Disruption of retinoid-related orphan receptor β changes circadian behavior, causes retinal degeneration and leads to vacillans phenotype in mice

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