Associated Papers
Rescuing Neurodevelopmental Deficits in AMPA Receptor Gain-of-Function Mutant.
Chen CM et al.
Biorxiv : the Preprint Server for Biology, 2025
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.
Henry OJ et al.
Epilepsia, 2025
40183601 (PubMed )
Supplement: EPI-66-2966-s001.xlsx › supplementary_table9_v2.01
Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum.
Guerrini R et al.
Physiological Reviews, 2023
Novel Heterozygous Missense Variant in GRIA4 Gene Associated With Neurodevelopmental Disorder With or Without Seizures and Gait Abnormalities.
Wang H et al.
Frontiers in Genetics, 2022
Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review.
Spagnoli C et al.
International Journal of Molecular Sciences, 2021
33919646 (PubMed )
Supplement: ijms-22-04202-s001.zip › Table_S1.pdf
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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