Associated Papers
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
Improvement of variant reclassification in genetic neurodevelopmental conditions.
Kowanda M et al.
Genetics in Medicine Open, 2024
39669614 (PubMed )
Supplement: mmc2.xlsx › Classification_criteria_applied
IRF2BPL as a novel causative gene for progressive myoclonus epilepsy.
Gardella E et al.
Epilepsia, 2023
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_
IRF2BPL gene mutation: Expanding on neurologic phenotypes.
Shelkowitz E et al.
American Journal of Medical Genetics. Part A, 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
Select a paper to view details