Associated Papers
NEDAMSS syndrome-related truncating and missense mutations are associated with aberrant liquid-liquid phase separation of IRF2BPL.
Dell'Oca M et al.
Nature Communications, 2026
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 gene variants: One new case.
Spagnoli C et al.
American Journal of Medical Genetics. Part A, 2020
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