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
Molecular Screening Reveals De Novo Loss-of-Function NR4A2 Variants in Saudi Children with Autism Spectrum Disorders: A Single-Center Study.
Alharbi NM et al.
International Journal of Molecular Sciences, 2025
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
Pediatric-Onset Epilepsy and Developmental Epileptic Encephalopathies Followed by Early-Onset Parkinsonism.
Spagnoli C et al.
International Journal of Molecular Sciences, 2023
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
Loss-of-Function Mutations in NR4A2 Cause Dopa-Responsive Dystonia Parkinsonism.
Wirth T et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2020
Heterozygous loss of function of NR4A2 is associated with intellectual deficiency, rolandic epilepsy, and language impairment.
Ramos LLP et al.
Clinical Case Reports, 2019
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