Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region-Reference-Cited by-同舟云学术

Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region

Published:2019-01-25 Issue:3 Volume:60 Page:406-418
ISSN:0013-9580
Container-title:Epilepsia
language:en
Short-container-title:Epilepsia

Author:

Kelly McKenna¹²,Park Meredith¹,Mihalek Ivana³,Rochtus Anne¹,Gramm Marie⁴,Pérez-Palma Eduardo⁴,Axeen Erika Takle¹⁵,Hung Christina Y.³,Olson Heather¹⁶⁷,Swanson Lindsay⁸,Anselm Irina⁷⁸,Briere Lauren C.⁹,High Frances A.⁹,Sweetser David A.⁹,Kayani Saima¹⁰,Snyder Molly¹¹,Calvert Sophie¹²,Scheffer Ingrid E.¹³,Yang Edward¹⁴¹⁵,Waugh Jeff L.⁷⁸¹⁶,Lal Dennis⁴¹⁷¹⁸,Bodamer Olaf³¹⁸¹⁹²⁰,Poduri Annapurna¹⁶⁷¹⁸²¹,

Affiliation:

1. Epilepsy Genetics Program; Department of Neurology; Boston Children’s Hospital; Boston Massachusetts

2. Dartmouth Medical School; Hanover New Hampshire

3. Division of Genetics and Genomics; Boston Children’s Hospital; Boston Massachusetts

4. Cologne Center for Genomics; Cologne Germany

5. Department of Neurology; University of Virginia; Charlottesville Virginia

6. Division of Epilepsy and Clinical Neurophysiology; Boston Children’s Hospital; Boston Massachusetts

7. Department of Neurology; Harvard Medical School; Boston Massachusetts

8. Department of Neurology; Boston Children’s Hospital; Boston Massachusetts

9. Department of Medical Genetics; Massachusetts General Hospital; Boston Massachusetts

10. Department of Pediatrics, Neurology, and Neurotherapeutics; University of Texas Southwestern Medical Center; Dallas Texas

11. Department of Neurology; Children’s Health; Dallas Texas

12. Neuroscience Department; Lady Cilento Children’s Hospital; Brisbane Queensland Australia

13. Florey and Murdoch Children’s Research Institute; Austin Health and Royal Children’s Hospital; University of Melbourne; Melbourne Victoria Australia

14. Department of Radiology; Boston Children’s Hospital; Boston Massachusetts

15. Department of Radiology; Harvard Medical School; Boston Massachusetts

16. Department of Pediatrics; University of Texas Southwestern; Dallas Texas

17. Stanley Center for Psychiatric Research; Broad Institute; Cambridge Massachusetts

18. Broad Institute of Massachusetts Institute of Technology and Harvard University; Cambridge Massachusetts

19. Department of Pediatrics; Harvard Medical School; Boston Massachusetts

20. Manton Center for Orphan Disease Research; Boston Children’s Hospital; Boston Massachusetts

21. F. M. Kirby Neurobiology Center; Boston Children’s Hospital; Boston Massachusetts

Funder

Australian National Health and Medical Research Council Program Grant and Practitioner Fellowship

Fulbright Association

Belgian American Educational Foundation

Boston Children’s Hospital

National Institutes of Health

Bureau of Educational and Cultural Affairs of the United States Department of State and administered by the Institute of International Education

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/epi.14653/fullpdf

Reference31 articles.

1. ILAE classification of the epilepsies: position paper of the ILAE commission for classification and terminology;Scheffer;Epilepsia,2017

2. De novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy;Nakamura;Am J Hum Genet,2013

3. De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies;EuroEPINOMICS-RES Consortium;Am J Hum Genet,2014

4. Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy;Law;Clin Chim Acta,2015

5. Clinical phenotype of de novo GNAO1 mutation: case report and review of literature;Talvik;Child Neurol Open,2015

Cited by 54 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Movement Disorders in Patients With Genetic Developmental and Epileptic Encephalopathies;Neurology;2023-11-07

2. Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing GNAO1 Mutation P170R;Cells;2023-10-17

3. A novel approach to seizures in neonates;European Journal of Paediatric Neurology;2023-09

4. Severity of GNAO1‐Related Disorder Correlates with Changes in G‐Protein Function;Annals of Neurology;2023-08-31

5. Phenotypes in children with GNAO1 encephalopathy in China;Frontiers in Pediatrics;2023-08-29