Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy-Reference-Cited by-同舟云学术

Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy

Published:2021-07-13 Issue:2 Volume:90 Page:274-284
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol

Author:

Spinelli Egidio¹,Christensen Kyle R.²^ORCID,Bryant Emily³⁴,Schneider Amy⁵,Rakotomamonjy Jennifer⁶,Muir Alison M.⁷,Giannelli Jessica³,Littlejohn Rebecca O.⁸⁹,Roeder Elizabeth R.⁸⁹,Schmidt Berkley¹⁰,Wilson William G.¹⁰,Marco Elysa J.¹¹¹²,Iwama Kazuhiro¹³,Kumada Satoko¹⁴,Pisano Tiziana¹⁵,Barba Carmen¹⁵^ORCID,Vetro Annalisa¹⁵,Brilstra Eva H.¹⁶,Jaarsveld Richard H.¹⁶,Matsumoto Naomichi¹³,Goldberg‐Stern Hadassa¹⁷,Carney Patrick W.¹⁸,Andrews P. Ian¹⁹,El Achkar Christelle M.¹⁷,Berkovic Sam⁵^ORCID,Rodan Lance H.²⁰,McWalter Kirsty²¹,Guerrini Renzo¹⁵,Scheffer Ingrid E.⁵,Mefford Heather C.⁷,Mandelstam Simone²²²³,Laux Linda³²⁴,Millichap John J.³²⁴,Guemez‐Gamboa Alicia⁶,Nairn Angus C.²,Carvill Gemma L.²⁴²⁵²⁶^ORCID,

Affiliation:

1. Schulich School of Medicine and Dentistry Western University London ON Canada

2. Department of Psychiatry Yale School of Medicine, Connecticut Mental Health Center New Haven CT

3. Epilepsy Center and Division of Neurology, Ann and Robert H. Lurie Children's Hospital of Chicago Chicago IL

4. Division of Genetics, Birth Defects and Metabolism Ann and Robert H. Lurie Children's Hospital of Chicago Chicago IL

5. Epilepsy Research Centre, Department of Medicine, Austin Health The University of Melbourne Heidelberg VIC Australia

6. Department of Physiology Northwestern University Feinberg School of Medicine Chicago IL

7. Division of Genetic Medicine, Department of Pediatrics University of Washington Seattle WA

8. Department of Molecular and Human Genetics Baylor College of Medicine Houston TX

9. Department of Pediatrics Baylor College of Medicine San Antonio TX

10. Division of Medical Genetics University of Virginia Charlottesville VA

11. Department of Pediatrics University of California San Francisco CA

12. Research Division Cortica Healthcare San Rafael CA

13. Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan

14. Department of Neuropediatrics Tokyo Metropolitan Neurological Hospital Tokyo Japan

15. Neuroscience Department Children's Hospital A. Meyer‐University of Florence Florence Italy

16. Genetics Department University Medical Centre Utrecht Utrecht The Netherlands

17. Epilepsy Unit and EEG Lab Schneider Medical Center Petah Tikv Israel

18. Eastern Health Clinical School Monash University Melbourne Victoria Australia

19. Department of Neurology Sydney Children's Hospital Sydney New South Wales Australia

20. Department of Neurology and Division of Genetics and Genomics Boston Children's Hospital Boston MA

21. GeneDx Gaithersburg MD

22. Department of Pediatrics and Radiology University of Melbourne Melbourne VIC Australia

23. Department of Medical Imaging Royal Children's Hospital of Melbourne Melbourne VIC Australia

24. Department of Pediatrics Northwestern University Feinberg School of Medicine Chicago IL

25. Ken and Ruth Davee Department of Neurology Northwestern University Feinberg School of Medicine Chicago IL

26. Department of Pharmacology Northwestern University Feinberg School of Medicine Chicago IL

Funder

National Institutes of Health

NIH Office of the Director

Office of Strategic Coordination

NIH Common Fund

Yale University

Japan Agency for Medical Research and Development

March of Dimes Foundation

National Health and Medical Research Council

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.26147

Reference29 articles.

1. The genetic landscape of the epileptic encephalopathies of infancy and childhood

2. A new classification and class 1 evidence transform clinical practice in epilepsy

3. Profile of neonatal epilepsies

4. Expression of the MAST family of serine/threonine kinases

5. Reciprocal regulation of ARPP‐16 by PKA and MAST3 kinases provides a cAMP‐regulated switch in protein phosphatase 2A inhibition;Musante V;Elife,2017

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