Associated Papers
Non-Convulsive Status Epilepticus and Mild Neurodevelopmental Phenotype in a Female with a Novel p.Thr657Ala Variant in the GRIA3 Gene.
Rubino A et al.
Children (basel, Switzerland), 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
39937650 (PubMed )
Supplement: awaf059_supplementary_data.zip › brain-2024-02450-File011.pdf
Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.
Allen JP et al.
Human Molecular Genetics, 2024
37944084 (PubMed )
Supplement: grid_variants_supplemental_revised_10-26-2023_final_rev_ddad188.pdf
A de novo GRIA3 variant with complex hyperkinetic movement disorder in a girl with developmental delay and self-limited epilepsy.
Necpál J et al.
Parkinsonism & Related Disorders, 2023
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