Associated Papers
Expanding the phenotype of NEDAMSS with a psychiatric perspective: analysis of a new case, and a systematic review of the literature.
Kristiansen K et al.
European Child & Adolescent Psychiatry, 2025
Clinical characterization of IRF2BPL mutation: Case series and review of the literature.
Lou X et al.
Medicine, 2025
IRF2BPL as a novel causative gene for progressive myoclonus epilepsy.
Gardella E et al.
Epilepsia, 2023
Adult onset familiar dystonia-plus syndrome: A novel presentation of IRF2BPL-associated neurodegeneration.
Antonelli F et al.
Parkinsonism & Related Disorders, 2022
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