Associated Papers
Expanding the Clinical Spectrum of NR4A2-Related Disorder: A Systematic Literature Review and Case Series.
Borden C et al.
American Journal of Medical Genetics. Part A, 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
NR4A2 as a Novel Target Gene for Developmental and Epileptic Encephalopathy: A Systematic Review of Related Disorders and Therapeutic Strategies.
Gabaldon-Albero A et al.
International Journal of Molecular Sciences, 2024
Two novel heterozygous truncating variants in NR4A2 identified in patients with neurodevelopmental disorder and brief literature review.
Song X et al.
Frontiers in Neuroscience, 2022
De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy.
Singh S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
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