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
Novel human neurodevelopmental and neurodegenerative disease associated with IRF2BPL gene variants-mechanisms and therapeutic avenues.
Bauersachs D et al.
Frontiers in Neuroscience, 2024
IRF2BPL: A new genotype for progressive myoclonus epilepsies.
Costa C et al.
Epilepsia, 2023
IRF2BPL as a novel causative gene for progressive myoclonus epilepsy.
Gardella E et al.
Epilepsia, 2023
IRF2BPL gene mutation: Expanding on neurologic phenotypes.
Shelkowitz E et al.
American Journal of Medical Genetics. Part A, 2019
Using MARRVEL v1.2 for Bioinformatics Analysis of Human Genes and Variant Pathogenicity.
Wang J et al.
Current Protocols in Bioinformatics, 2019
IRF2BPL Is Associated with Neurological Phenotypes.
Marcogliese PC et al.
American Journal of Human Genetics, 2018
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