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
IRF2BPL as a novel causative gene for progressive myoclonus epilepsy.
Gardella E et al.
Epilepsia, 2023
IRF2BPL mutations cause autosomal dominant dystonia with anarthria, slow saccades and seizures.
Ganos C et al.
Parkinsonism & Related Disorders, 2019
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