Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/12792
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dc.contributor.authorDamiano, John Anthonyen
dc.contributor.authorAfawi, Zaiden
dc.contributor.authorBahlo, Melanieen
dc.contributor.authorMauermann, Monikaen
dc.contributor.authorMisk, Adelen
dc.contributor.authorArsov, Todoren
dc.contributor.authorOliver, Karen Len
dc.contributor.authorDahl, Hans-Henrik Men
dc.contributor.authorShearer, A Elioten
dc.contributor.authorSmith, Richard J Hen
dc.contributor.authorHall, Nathan Een
dc.contributor.authorMahmood, Khaliden
dc.contributor.authorLeventer, Richard Jen
dc.contributor.authorScheffer, Ingrid Een
dc.contributor.authorMuona, Mikkoen
dc.contributor.authorLehesjoki, Anna-Elinaen
dc.contributor.authorKorczyn, Amos Den
dc.contributor.authorHermann, Haralden
dc.contributor.authorBerkovic, Samuel Fen
dc.contributor.authorHildebrand, Michael Sen
dc.date.accessioned2015-05-16T02:32:03Z
dc.date.available2015-05-16T02:32:03Z
dc.date.issued2015-05-07en
dc.identifier.citationHuman Molecular Genetics 2015; 24(16): 4483-90en
dc.identifier.govdoc25954030en
dc.identifier.otherPUBMEDen
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/12792en
dc.description.abstractWe studied a consanguineous Palestinian Arab family segregating an autosomal recessive progressive myoclonus epilepsy (PME) with early ataxia. PME is a rare, often fatal syndrome, initially responsive to antiepileptic drugs which over time becomes refractory, and can be associated with cognitive decline. Linkage analysis was performed and the disease locus narrowed to chromosome 19p13.3. Fourteen candidate genes were screened by conventional Sanger sequencing and in one, LMNB2, a novel homozygous missense mutation was identified that segregated with the PME in the family. Whole exome sequencing excluded other likely pathogenic coding variants in the linked interval. In vitro assembly analysis of mutant lamin B2 protein revealed a distinct defect in the assembly of the highly ordered fibrous arrays typically formed by wild-type lamin B2. Our data suggests that disruption of the organisation of the nuclear lamina in neurons, perhaps through abnormal neuronal migration, causes the epilepsy and early ataxia syndrome, and extends the etiology of PMEs to include dysfunction in nuclear lamin proteins.en
dc.language.isoenen
dc.titleMutation of the Nuclear Lamin Gene LMNB2 in Progressive Myoclonus Epilepsy with Early Ataxia.en
dc.typeJournal Articleen
dc.identifier.journaltitleHuman molecular geneticsen
dc.identifier.affiliationMolecular Otolaryngology & Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USAen
dc.identifier.affiliationEpilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia toria, Australiaen
dc.identifier.affiliationEpilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia toria, Australia Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne; Victoria, Australia The Florey Institute for Neuroscience and Mental Health, The University of Melbourne, Melbourne, Victoria, Australiaen
dc.identifier.affiliationBioinformatics Division, The Walter and Eliza Hall Institute, Melbourne, Australiaen
dc.identifier.affiliationLife Sciences Computation Centre, VLSCI, Melbourne, Australiaen
dc.identifier.affiliationLife Sciences Computation Centre, VLSCI, Melbourne, Australia La Trobe Institute for Molecular Sciences, La Trobe University, Melbourne Australiaen
dc.identifier.affiliationDepartment of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne; Victoria, Australia Murdoch Children's Research Institute, Melbourne, Victoria, Australia Department of Neurology, Royal Children's Hospital, Melbourne, Victoria, Australiaen
dc.identifier.affiliationDivision of Molecular Genetics, German Cancer Research Centre, Heidelberg, Germany.en
dc.identifier.affiliationDepartment of Neurology, Shaare Zedek Medical Center, JerUSAlem, Israel.en
dc.identifier.affiliationInstitute for Molecular Medicine, Neuroscience Centre, and Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland FolkhÄlsan Institute of Genetics, Helsinki, Finland.en
dc.identifier.affiliationSackler School of Medicine, Tel Aviv University, Ramat-Aviv, 69978, Tel-Aviv, Israel.en
dc.identifier.doi10.1093/hmg/ddv171en
dc.relation.urlhttps://pubmed.ncbi.nlm.nih.gov/25954030en
dc.type.austinJournal Articleen
local.name.researcherBerkovic, Samuel F
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.cerifentitytypePublications-
item.languageiso639-1en-
item.grantfulltextnone-
item.fulltextNo Fulltext-
item.openairetypeJournal Article-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptNeurology-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptMedicine (University of Melbourne)-
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