Elena Gardella, Roberto Michelucci, Hanne M Christensen, Christina D Fenger, Chiara Reale, Patrizia Riguzzi, Elena Pasini, Luca Albini-Riccioli, Valentina Papa, Maria Pia Foschini, Giovanna Cenacchi, Francesca Furia, Dragan Marjanovic, Trine B Hammer, Rikke S Møller, Guido Rubboli
IRF2BPL has recently been described as a novel cause of neurodevelopmental disorders with multisystemic regression, epilepsy, cerebellar symptoms, dysphagia, dystonia, and pyramidal signs. We describe a novel IRF2BPL phenotype consistent with progressive myoclonus epilepsy (PME) in three novel subjects and review the features of the 31 subjects with IRF2BPL-related disorders previously reported. Our three probands, aged 28-40 years, harbored de novo nonsense variants in IRF2BPL (c.370C > T, p...
August 2023: Epilepsia