Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/32221
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dc.contributor.authorCosta, Cinzia-
dc.contributor.authorOliver, Karen L-
dc.contributor.authorCalvello, Carmen-
dc.contributor.authorCameron, Jillian M-
dc.contributor.authorImperatore, Valentina-
dc.contributor.authorTonelli, Laura-
dc.contributor.authorColavito, Davide-
dc.contributor.authorFranceschetti, Silvana-
dc.contributor.authorCanafoglia, Laura-
dc.contributor.authorBerkovic, Samuel F-
dc.contributor.authorProntera, Paolo-
dc.date2023-
dc.date.accessioned2023-03-01T03:56:01Z-
dc.date.available2023-03-01T03:56:01Z-
dc.date.issued2023-08-
dc.identifier.citationEpilepsia 2023-08; 64(8)en_US
dc.identifier.issn1528-1167-
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/32221-
dc.description.abstractThe 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.en_US
dc.language.isoeng-
dc.subjectAtaxiaen_US
dc.subjectIRF2BPLen_US
dc.subjectNeurodevelopmental disorderen_US
dc.subjectProgressive Myoclonic Epilepsyen_US
dc.subjectWhole-Exome Sequencingen_US
dc.titleIRF2BPL: A new genotype for progressive myoclonus epilepsies.en_US
dc.typeJournal Articleen_US
dc.identifier.journaltitleEpilepsiaen_US
dc.identifier.affiliationNeurology Clinic, Department of Medicine and Surgery, University of Perugia-S. Maria della Misericordia Hospital, Perugia, Italy.en_US
dc.identifier.affiliationEpilepsy Research Centreen_US
dc.identifier.affiliationNeurology Clinic, Department of Medicine and Surgery, University of Perugia-S. Maria della Misericordia Hospital, Perugia, Italy.en_US
dc.identifier.affiliationMedicine (University of Melbourne)en_US
dc.identifier.affiliationMedical Genetics Unit, Maternal-Infantile Department, S. Maria della Misericordia Hospital, Perugia, Italy.en_US
dc.identifier.affiliationMedical Genetics Unit, Department of Medical Sciences, University of Ferrara, 44121, Ferrara, Italy.en_US
dc.identifier.affiliationR&I Genetics SRL, 35127, Padua, Italy.en_US
dc.identifier.affiliationDepartment of Diagnostics and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.en_US
dc.identifier.doi10.1111/epi.17557en_US
dc.type.contentTexten_US
dc.identifier.orcid0000-0001-5188-6153en_US
dc.identifier.orcid0000-0002-5385-761Xen_US
dc.identifier.orcid0000-0003-4580-841Xen_US
dc.identifier.orcid0000-0003-4960-9223en_US
dc.identifier.pubmedid36810721-
local.name.researcherBerkovic, Samuel F-
item.fulltextNo Fulltext-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.cerifentitytypePublications-
item.languageiso639-1en-
item.grantfulltextnone-
item.openairetypeJournal Article-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptNeurology-
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