Article
IRF2BPL: A new genotype for progressive myoclonus epilepsies.
Epilepsia - 1 Aug 2023
Costa Cinzia, Oliver Karen L, Calvello Carmen, Cameron Jillian M, Imperatore Valentina, Tonelli Laura, Colavito Davide, Franceschetti Silvana, Canafoglia Laura, Berkovic Samuel F, Prontera Paolo
Abstract excerpt
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 patients with PME, 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...
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