Genetic analysis of IRF2BPL in a Taiwanese dystonia cohort: The genotype and phenotype correlation
Sign Up to like & getrecommendations! Published in 2024 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.52072
Abstract: IRF2BPL mutation has been associated with a rare neurodevelopmental disorder with abnormal movements, including dystonia. However, the role of IRF2BPL in dystonia remains elusive. We aimed to investigate IRF2BPL mutations in a Taiwanese dystonia cohort. read more here.
Keywords: dystonia cohort; genetic analysis; irf2bpl; taiwanese dystonia ... See more keywords
IRF2BPL as a novel causative gene for Progressive Myoclonus Epilepsy.
Sign Up to like & getrecommendations! Published in 2023 at "Epilepsia"
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