Associated Papers
Movement Disorders in GRIA2-Related Disorder - Expanding the Genetic Spectrum of Developmental Dyskinetic Encephalopathy.
Vijayaraghavan A et al.
Movement Disorders Clinical Practice, 2023
Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases.
Park S et al.
Frontiers in Genetics, 2022
36212160 (PubMed )
Supplement: DataSheet2.xlsx › Table_S2
Expansion of the GRIA2 phenotypic representation: a novel de novo loss of function mutation in a case with childhood onset schizophrenia.
Alkelai A et al.
Journal of Human Genetics, 2021
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
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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