Associated Papers
Novel ADAR2 variants in children with seizures, intellectual disability, and motor delay have reduced RNA editing.
Du Q et al.
Rna (new York, N.y.), 2025
Mechanisms of Ion Permeation in the AMPA Receptor Ion Channel.
Romero AM et al.
Biorxiv : the Preprint Server for Biology, 2025
Rett Syndrome Spectrum in Monogenic Developmental-Epileptic Encephalopathies and Epilepsies: A Review.
Spagnoli C et al.
Genes, 2021
34440332 (PubMed )
Supplement: genes-12-01157-s001.zip › genes-1245896-Table_S1.xlsx › Sheet1
Case Report: A Novel De Novo Missense Mutation of the GRIA2 Gene in a Chinese Case of Neurodevelopmental Disorder With Language Impairment.
Zhou B et al.
Frontiers in Genetics, 2021
Activity Dependent Inhibition of AMPA Receptors by Zn2.
Carrillo E et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2020
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Salpietro V et al.
Nature Communications, 2019
[A novel missense mutation in MIP gene resulted in polymorphic cataract].
Lin H et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2008
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