Article
The GluN2B-Trp373 NMDA Receptor Variant is Associated with Autism-, Epilepsy-Related Phenotypes and Reduces NMDA Receptor Currents in Rats.
Neurochemical research - 1 Jun 2022
Wang Xiaona, Guo Zhiyue, Mei Daoqi, Zhang Yaodong, Zhao Shuai, Hu Shunan, Luo Shuying, Wang Qi, Gao Chao
Abstract excerpt
Autism spectrum disorder (ASD) is a neurodevelopmental condition with core clinical features of abnormal communication, social interactions, atypical intelligence, and a higher risk of epilepsy. Prior work has suggested that de novo heterozygous mutations in the GRIN2B gene that encodes the GluN2B subunit of N-methyl-D-aspartic acid receptors are likely linked to ASD. However, whether GLuN2B-Trp373 mutation...
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