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
Unraveling genetic etiologies in complex pediatric neurological diseases: A genetic investigation using whole exome sequencing.
Gaouzi Z et al.
Plos One, 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
IRF2BPL gene mutation: Expanding on neurologic phenotypes.
Shelkowitz E et al.
American Journal of Medical Genetics. Part A, 2019
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.
Shashi V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
IRF2BPL Is Associated with Neurological Phenotypes.
Marcogliese PC et al.
American Journal of Human Genetics, 2018
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