GRIN2A-related disorders: genotype and functional consequence predict phenotype-Reference-Cited by-同舟云学术

GRIN2A-related disorders: genotype and functional consequence predict phenotype

Published:2018-12-12 Issue:1 Volume:142 Page:80-92
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:

Author:

Strehlow Vincent¹,Heyne Henrike O¹²³,Vlaskamp Danique R M⁴⁵,Marwick Katie F M⁶,Rudolf Gabrielle⁷⁸⁹¹⁰,de Bellescize Julitta¹¹,Biskup Saskia¹²,Brilstra Eva H¹³,Brouwer Oebele F⁴,Callenbach Petra M C⁴,Hentschel Julia¹,Hirsch Edouard⁸⁹¹⁰¹⁴,Kind Peter C⁶¹⁵¹⁶,Mignot Cyril¹⁷¹⁸¹⁹,Platzer Konrad¹,Rump Patrick⁵,Skehel Paul A⁶,Wyllie David J A⁶¹⁵¹⁶,Hardingham Giles E⁶¹⁵²⁰,van Ravenswaaij-Arts Conny M A⁵,Lesca Gaetan²¹²²²³,Lemke Johannes R¹,Arzimanoglou Alexis,Augustijn Paul B,Van Bogaert Patrick,Bourry Helene,Burfeind Peter,Chu Yoyo,Chung Brian,Doummar Diane,Edery Patrick,Fattal-Valevski Aviva,Fradin Mélanie,Gerard Marion,de Geus Christa,Gunning Boudewijn,Hasaerts Danielle,Helbig Ingo,Helbig Katherine L,Jamra Rami,Lyver Mélanie Jennesson,Wassink-Ruiter Jolien S Klein,Koolen David A,Lederer Damien,Lunsing Roelineke J,Mathot Mikaël,Maurey Hélène,Menascu Shay,Michel Anne,Mirzaa Ghayda,Mitter Diana,Muhle Hiltrud,Møller Rikke S,Nava Caroline,O’Brien Margaret,van Pinxteren-Nagler Evelyn,van Riesen Anne,Rougeot Christelle,Sanlaville Damien,Schieving Jolanda H,Syrbe Steffen,Veenstra-Knol Hermine E,Verbeek Nienke,Ville Dorothée,Vos Yvonne J,Vrielynck Pascal,Wagner Sabrina,Weckhuysen Sarah,Willemsen Marjolein H,

Affiliation:

1. Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany

2. Analytic and Translational Genetics Unit, Massachusetts General Hospital, MA, USA

3. Program for Medical and Population Genetics/Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA

4. University of Groningen, University Medical Centre Groningen, Department of Neurology, Groningen, The Netherlands

5. University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, The Netherlands

6. Centre for Discovery Brain Sciences, University of Edinburgh, Hugh Robson Building, George Square, Edinburgh, UK

7. Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France, Centre National de la Recherche Scientifique, U7104, Illirch France

8. Institut National de la Santé et de la Recherche Médicale, U1258, Illkirch, France

9. Université de Strasbourg, Illkirch, France

10. Department of Neurology, Strasbourg University Hospital, Strasbourg, France

11. Department of Pediatric and Clinical Epileptology, Sleep Disorders and Functional Neurology, University Hospitals of Lyon, Lyon, France

12. CeGaT GmbH and Praxis für Humangenetik, Tübingen, Germany

13. University Medical Center Utrecht, Department of Genetics, Utrecht, The Netherlands

14. Medical and Surgical Epilepsy Unit, Hautepierre Hospital, University of Strasbourg, Strasbourg, France

15. Simons Initiative for the Developing Brain, University of Edinburgh, Hugh Robson Building, George Square, Edinburgh, UK

16. Centre for Brain Development and Repair, inStem, Bangalore, India

17. Assistance Publique-Hôpitaux de Paris, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France

18. Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France

19. GRC Sorbonne Université “Déficience Intellectuelle et Autisme”, Paris, France

20. UK Dementia Research Institute at The University of Edinburgh, Edinburgh Medical School, 47 Little France Crescent, Edinburgh, UK

21. Department of Genetics, Lyon University Hospitals, Lyon, France

22. Lyon Neuroscience Research Centre, CNRS UMR5292, INSERM U1028, Lyon, France

23. Claude Bernard Lyon I University, Lyon, France

Funder

German Federal Ministry of Education and Research

BMBF

German Research Foundation

DFG

KFMM

Wellcome Trust Clinical PhD Fellowship

National Institute of Neurological Disorders and Stroke

Jordan’s Guardian Angels

University of Kiel

EuroEPINOMICS framework of the European Science Foundation

Department of Biotechnology, Government of India

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

Link

http://academic.oup.com/brain/article-pdf/142/1/80/27295933/awy304.pdf

Reference30 articles.

1. Epilepsy-associated GRIN2A mutations reduce NMDA receptor trafficking and agonist potency–molecular profiling and functional rescue;Addis;Sci Rep,2017

2. Glutamate receptor composition of the post-synaptic density is altered in genetic mouse models of NMDA receptor hypo–and hyperfunction;Balu;Brain Res,2011

3. Gene expression switching of receptor subunits in human brain development;Bar-Shira;PLoS Comput Biol,2015

4. Pituitary adenylate cyclase-activating peptide induces long-lasting neuroprotection through the induction of activity-dependent signaling via the cyclic AMP response element-binding protein-regulated transcription co-activator 1;Baxter;J Neurochem,2011

5. GRIN2A mutations cause epilepsy-aphasia spectrum disorders;Carvill;Nat Genet,2013

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