IRF2BPL as a novel causative gene for Progressive Myoclonus Epilepsy.
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DOI: 10.1111/epi.17634
Abstract: IRF2BPL has recently been described as a novel cause of neurodevelopmental disorders with multi-systemic regression, epilepsy, cerebellar symptoms, dysphagia, dystonia, and pyramidal signs. We describe a novel IRF2BPL phenotype consistent with progressive myoclonic epilepsy (PME)… read more here.
Keywords: irf2bpl; myoclonus epilepsy; novel causative; irf2bpl novel ... See more keywords