The epileptology of GNB5 encephalopathy-Reference-Cited by-同舟云学术

The epileptology of GNB5 encephalopathy

Published:2019-10-20 Issue:11 Volume:60 Page:
ISSN:0013-9580
Container-title:Epilepsia
language:en
Short-container-title:Epilepsia

Author:

Poke Gemma¹^ORCID,King Chontelle¹,Muir Alison²^ORCID,Valles‐Ibáñez Guillem¹,Germano Michele³,Moura de Souza Carolina F.⁴,Fung Jasmine⁵,Chung Brian⁵,Fung Cheuk Wing⁵,Mignot Cyril⁶,Ilea Adina⁷,Keren Boris⁸,Vermersch Anne‐Isabelle⁹,Davis Suzanne¹⁰,Stanley Thorsten¹,Moharir Mahendranath¹¹,Kannu Peter¹²,Shao Zhuo¹²,Malerba Natascia¹³,Merla Giuseppe¹³^ORCID,Mefford Heather C.²,Scheffer Ingrid E.¹⁴,Sadleir Lynette G.¹

Affiliation:

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

2. Department of Pediatrics University of Washington Seattle WA USA

3. Maternal and Pediatric Department IRCCS Casa Sollievo della Sofferenza Hospital San Giovanni Rotondo Italy

4. Medical Genetics Service Hospital de Clinicas de Porto Alegre Porto Alegre Brazil

5. Department of Paediatrics and Adolescent Medicine The University of Hong Kong Hong Kong City Hong Kong

6. Department of Genetics Reference Center for Intellectual Disorders of Rare Causes APHP Pitié‐Salpêtrière University Hospital Paris France

7. Department of Pediatric Neurology and Metabolic Diseases APHP Robert Debré Hospital Paris France

8. Department of Genetics APHP Pitié‐Salpêtrière University Hospital Paris France

9. Department of Neurophysiology APHP Armand‐Trousseau Hospital Paris France

10. Starship Children’s Hospital Auckland New Zealand

11. Division of Neurology The Hospital for Sick Children Toronto Ontario Canada

12. Division of Clinical and Metabolic Genetics The Hospital for Sick Children Toronto Ontario Canada

13. Division of Medical Genetics IRCCS Casa Sollievo della Sofferenza Hospital San Giovanni Rotondo Italy

14. Florey and Murdoch Children’s Research Institute Austin Health and Royal Children's Hospital University of Melbourne Parkville Victoria Australia

Funder

Health Research Council of New Zealand

NIH Clinical Center

National Health and Medical Research Council

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/epi.16372

Reference8 articles.

1. GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability

2. Familial early infantile epileptic encephalopathy and cardiac conduction disorder: A rare cause of SUDEP in infancy

3. Intellectual developmental disorder with cardiac arrhythmia syndrome in a child with compound heterozygous GNB5 variants

4. GNB5 mutation causes a novel neuropsychiatric disorder featuring attention deficit hyperactivity disorder, severely impaired language development and normal cognition

5. A NGS-Targeted Autism/ID Panel Reveals Compound Heterozygous GNB5 Variants in a Novel Patient

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