A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorder-Reference-Cited by-同舟云学术

A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorder

Published:2018-04-11 Issue:6 Volume:33 Page:992-999
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov Disord.

Author:

Fernández-Marmiesse Ana¹²,Kusumoto Hirofumi³,Rekarte Saray⁴,Roca Iria¹²,Zhang Jin³⁵,Myers Scott J.³⁶,Traynelis Stephen F.³⁶,Couce Mª Luz¹²,Gutierrez-Solana Luis⁴,Yuan Hongjie³⁶

Affiliation:

1. Unit for the Diagnosis and Treatment of Congenital Metabolic Diseases, Clinical University Hospital of Santiago de Compostela, Health Research Institute of Santiago de Compostela, Santiago de Compostela; Galicia Spain

2. Centro de Investigación Biomédica de Enfermedades Raras, Instituto de Salud Carlos III; Madrid Spain

3. Department of Pharmacology; Emory University School of Medicine, Rollins Research Center; Atlanta Georgia USA

4. Unit of Child Neurology, Department of Pediatrics, Hospital Infantil Universitario Niño Jesús de Madrid; Madrid Spain

5. Department of Neurology; the First Hospital of Shanxi Medical University; Taiyuan China

6. Center for Functional Evaluation of Rare Variants; Emory University School of Medicine; Atlanta Georgia USA

Funder

National Institutes of Health

Eunice Kennedy Shriver National Institute of Child Health & Human Development

National Institutes of Health-National Institute of Neurologic Disorders and Stroke

Instituto de Salud Carlos III Spain

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mds.27315/fullpdf

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