The GRIA3 c. 2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus-Reference-Cited by-同舟云学术

The GRIA3 c. 2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus

Published:2020-05-05 Issue:7 Volume:35 Page:1224-1232
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov Disord

Author:

Piard Juliette¹²^ORCID,Béreau Matthieu²³^ORCID,XiangWei Wenshu⁴^ORCID,Wirth Thomas⁵^ORCID,Amsallem Daniel⁶,Buisson Lauren⁶,Richard Philippe³,Liu Nana⁴^ORCID,Xu Yuchen⁴⁷^ORCID,Myers Scott J.⁴⁸^ORCID,Traynelis Stephen F.⁴⁸^ORCID,Chelly Jameleddine⁹,Anheim Mathieu⁵⁹¹⁰^ORCID,Raynaud Martine¹¹¹²^ORCID,Maldergem Lionel Van¹²¹³^ORCID,Yuan Hongjie⁴⁸^ORCID

Affiliation:

1. Centre de Génétique HumaineUniversité de Franche‐Comté, CHU Besançon France

2. Unité de recherche en neurosciences intégratives et cognitives EA481Université de Franche‐Comté Besançon France

3. Service de Neurologie, CHU Besançon France

4. Department of Pharmacology and Chemical BiologyEmory University School of Medicine Atlanta Georgia USA

5. Département de Neurologie, Hôpital de HautepierreHôpitaux Universitaires de Strasbourg Strasbourg France

6. Service de Neuropédiatrie, CHU Besançon France

7. Department of Neurology, Xiangya HospitalCentral South University Changsha Hunan China

8. Center for Functional Evaluation of Rare VariantsEmory University School of Medicine Atlanta Georgia USA

9. Institut de Génétique et de Biologie Moléculaire et Cellulaire Illkirch France

10. Fédération de Médecine Translationnelle de StrasbourgUniversité de Strasbourg Strasbourg France

11. CHRU de Tours, Service de Génétique Tours France

12. UMR1253, iBrainUniversité de Tours, Inserm Tours France

13. Clinical Investigation Center 1431National Institute of Health and Medical Research Besançon France

Funder

Eunice Kennedy Shriver National Institute of Child Health & Human Development

National Institute of Neurologic Disorders and Stroke

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mds.28058

Reference32 articles.

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5. HackmannK MatkoS GerlachE‐M et al.Partial deletion of GLRB and GRIA2 in a patient with intellectual disability. Eur J Hum Genet2013;21:112–114.

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