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
IRF2BPL-Related Disorder, Causing Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures (NEDAMSS) Is Characterized by Pathology Consistent with DRPLA.
Venkateswaran S et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
Novel human neurodevelopmental and neurodegenerative disease associated with IRF2BPL gene variants-mechanisms and therapeutic avenues.
Bauersachs D et al.
Frontiers in Neuroscience, 2024
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Schlüter A et al.
Genome Medicine, 2023
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 variants with dystonia: one new Chinese case report.
Yang F et al.
Bmc Neurology, 2023
Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling.
Marcogliese PC et al.
Science Advances, 2022
Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases.
Park S et al.
Frontiers in Genetics, 2022
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
A Wide Spectrum of Genetic Disorders Causing Severe Childhood Epilepsy in Taiwan: A Case Series of Ultrarare Genetic Cause and Novel Mutation Analysis in a Pilot Study.
Hong SY et al.
Journal of Personalized Medicine, 2020
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
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
39th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2018 Annual Meeting.
Boycott KM et al.
American Journal of Medical Genetics. Part A, 2019
IRF2BPL Is Associated with Neurological Phenotypes.
Marcogliese PC et al.
American Journal of Human Genetics, 2018