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
Clinical characterization of IRF2BPL mutation: Case series and review of the literature.
Lou X et al.
Medicine, 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 as a novel causative gene for progressive myoclonus epilepsy.
Gardella E et al.
Epilepsia, 2023
IRF2BPL gene variants with dystonia: one new Chinese case report.
Yang F et al.
Bmc Neurology, 2023
36670390 (PubMed )
Supplement: 12883_2023_3077_MOESM2_ESM.pdf
Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling.
Marcogliese PC et al.
Science Advances, 2022
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_
De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy.
Tran Mau-Them F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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