IRF2BPL: A new genotype for progressive myoclonus epilepsies
- Author(s)
- Costa, C; Oliver, KL; Calvello, C; Cameron, JM; Imperatore, V; Tonelli, L; Colavito, D; Franceschetti, S; Canafoglia, L; Berkovic, SF; Prontera, P;
- Details
- Publication Year 2023-02-21,Volume 64,Issue #8,Page e164-e169
- Journal Title
- Epilepsia
- Abstract
- The Progressive Myoclonus Epilepsies (PMEs) are a heterogeneous group of neurodegenerative disorders, typically presenting in late childhood. An etiologic diagnosis is achieved in about 80% of PME patients, and genome wide molecular studies on remaining, well selected, undiagnosed cases can further dissect the underlying genetic heterogeneity. Through whole-exome sequencing (WES), we identified pathogenic truncating variants in the IRF2BPL gene in two unrelated patients presenting with PME. IRF2BPL belongs to the transcriptional regulators family and it is expressed in multiple human tissues, including the brain. Recently missense and nonsense mutations in IRF2BPL were found in patients presenting with developmental delay and epileptic encephalopathy, ataxia, movement disorders, but none with clear PME. We identified 13 other patients in the literature with myoclonic seizures and IRF2BPL variants. There was no clear genotype-phenotype correlation. With the description of these cases, the IRF2BPL gene should be considered in the list of genes to be tested in the presence of PME, in addition to patients with neurodevelopmental or movement disorders.
- Publisher
- Wiley
- Keywords
- Ataxia; Irf2bpl; Neurodevelopmental disorder; Progressive Myoclonic Epilepsy; Whole-Exome Sequencing
- Research Division(s)
- Population Health And Immunity
- PubMed ID
- 36810721
- Publisher's Version
- https://doi.org/10.1111/epi.17557
- Terms of Use/Rights Notice
- Refer to copyright notice on published article.
Creation Date: 2023-11-30 09:13:27
Last Modified: 2023-11-30 09:21:46