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[Neurodevelopmental disorders associated with variants of GRIN gene family]
Xinyi Jiang1, Xinran Dong, Wenhao Zhou
1Shanghai Key Laboratory of Birth Defects, Key Laboratory of Neonatal Diseases, National Health Commission, Department of Neonatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China. zhouwenhao@fudan.edu.cn.
Abstract:
With the development of gene sequencing, a variety of mutations have been identified in the GRIN gene family which encode the NMDA receptors. Variants of the GRIN gene have been associated with neurodevelopmental disorders. Analysis of GRIN gene mutations and pharmacological functions of their receptors may reveal molecular mechanism of related diseases, and provide clues for the treatment strategies. This article summarizes the structure and function of the NMDA receptors, in addition with their genotype-phenotype correlation.
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