Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/12478
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dc.contributor.authorMuona, Mikkoen
dc.contributor.authorBerkovic, Samuel Fen
dc.contributor.authorDibbens, Leanne Men
dc.contributor.authorOliver, Karen Len
dc.contributor.authorMaljevic, Snezanaen
dc.contributor.authorBayly, Marta Aen
dc.contributor.authorJoensuu, Tarjaen
dc.contributor.authorCanafoglia, Lauraen
dc.contributor.authorFranceschetti, Silvanaen
dc.contributor.authorMichelucci, Robertoen
dc.contributor.authorMarkkinen, Sallaen
dc.contributor.authorHeron, Sarah Een
dc.contributor.authorHildebrand, Michael Sen
dc.contributor.authorAndermann, Evaen
dc.contributor.authorAndermann, Fredericken
dc.contributor.authorGambardella, Antonioen
dc.contributor.authorTinuper, Paoloen
dc.contributor.authorLicchetta, Lauraen
dc.contributor.authorScheffer, Ingrid Een
dc.contributor.authorCriscuolo, Chiaraen
dc.contributor.authorFilla, Alessandroen
dc.contributor.authorFerlazzo, Edoardoen
dc.contributor.authorAhmad, Jamilen
dc.contributor.authorAhmad, Adeelen
dc.contributor.authorBaykan, Betulen
dc.contributor.authorSaid, Edithen
dc.contributor.authorTopcu, Meralen
dc.contributor.authorRiguzzi, Patriziaen
dc.contributor.authorKing, Mary Den
dc.contributor.authorOzkara, Cigdemen
dc.contributor.authorAndrade, Danielle Men
dc.contributor.authorEngelsen, Bernt Aen
dc.contributor.authorCrespel, Arielleen
dc.contributor.authorLindenau, Matthiasen
dc.contributor.authorLohmann, Ebbaen
dc.contributor.authorSaletti, Veronicaen
dc.contributor.authorMassano, Joãoen
dc.contributor.authorPrivitera, Michaelen
dc.contributor.authorEspay, Alberto Jen
dc.contributor.authorKauffmann, Birgiten
dc.contributor.authorDuchowny, Michaelen
dc.contributor.authorMøller, Rikke Sen
dc.contributor.authorStraussberg, Rachelen
dc.contributor.authorAfawi, Zaiden
dc.contributor.authorBen-Zeev, Bruriaen
dc.contributor.authorSamocha, Kaitlin Een
dc.contributor.authorDaly, Mark Jen
dc.contributor.authorPetrou, Stevenen
dc.contributor.authorLerche, Holgeren
dc.contributor.authorPalotie, Aarnoen
dc.contributor.authorLehesjoki, Anna-Elinaen
dc.date.accessioned2015-05-16T02:10:53Z
dc.date.available2015-05-16T02:10:53Z
dc.date.issued2014-11-17en
dc.identifier.citationNature Genetics 2014; 47(1): 39-46en
dc.identifier.govdoc25401298en
dc.identifier.otherPUBMEDen
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/12478en
dc.description.abstractProgressive myoclonus epilepsies (PMEs) are a group of rare, inherited disorders manifesting with action myoclonus, tonic-clonic seizures and ataxia. We sequenced the exomes of 84 unrelated individuals with PME of unknown cause and molecularly solved 26 cases (31%). Remarkably, a recurrent de novo mutation, c.959G>A (p.Arg320His), in KCNC1 was identified as a new major cause for PME. Eleven unrelated exome-sequenced (13%) and two affected individuals in a secondary cohort (7%) had this mutation. KCNC1 encodes KV3.1, a subunit of the KV3 voltage-gated potassium ion channels, which are major determinants of high-frequency neuronal firing. Functional analysis of the Arg320His mutant channel showed a dominant-negative loss-of-function effect. Ten cases had pathogenic mutations in known PME-associated genes (NEU1, NHLRC1, AFG3L2, EPM2A, CLN6 and SERPINI1). Identification of mutations in PRNP, SACS and TBC1D24 expand their phenotypic spectra to PME. These findings provide insights into the molecular genetic basis of PME and show the role of de novo mutations in this disease entity.en
dc.language.isoenen
dc.subject.otherAmino Acid Sequenceen
dc.subject.otherAmino Acid Substitutionen
dc.subject.otherAnimalsen
dc.subject.otherBase Sequenceen
dc.subject.otherCarrier Proteins.geneticsen
dc.subject.otherConserved Sequenceen
dc.subject.otherExomeen
dc.subject.otherFemaleen
dc.subject.otherGenes, Dominanten
dc.subject.otherHeat-Shock Proteins.geneticsen
dc.subject.otherHumansen
dc.subject.otherMaleen
dc.subject.otherMolecular Sequence Dataen
dc.subject.otherMutation, Missenseen
dc.subject.otherMyoclonic Epilepsies, Progressive.geneticsen
dc.subject.otherPedigreeen
dc.subject.otherPoint Mutationen
dc.subject.otherPrions.geneticsen
dc.subject.otherProtein Conformationen
dc.subject.otherSequence Alignmenten
dc.subject.otherSequence Homology, Amino Aciden
dc.subject.otherShaw Potassium Channels.genetics.physiologyen
dc.subject.otherSpecies Specificityen
dc.titleA recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.en
dc.typeJournal Articleen
dc.identifier.journaltitleNature geneticsen
dc.identifier.affiliationEpilepsy Research Center, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia en
dc.identifier.affiliationEpilepsy Center, University of Cincinnati Neuroscience Institute, Cincinnati, Ohio, USAen
dc.identifier.affiliationGardner Center for Parkinson Disease and Movement Disorders, University of Cincinnati, Cincinnati, Ohio, USAen
dc.identifier.affiliationMontreal Neurological Institute, McGill University, Montreal, Quebec, Canadaen
dc.identifier.affiliationSchool of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australiaen
dc.identifier.affiliationDivision of Neurology, Department of Medicine, University of Toronto, Toronto Western Hospital, Krembil Neurosciences Program, Toronto, Ontario, Canadaen
dc.identifier.affiliationDepartment of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USAen
dc.identifier.affiliationResearch Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.en
dc.identifier.affiliationBrain Institute, Miami Children's Hospital, Miami, Florida, USAen
dc.identifier.affiliationEpilepsy Research Center, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australiaen
dc.identifier.affiliationInstitute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.en
dc.identifier.affiliationDanish Epilepsy Centre, Dianalund, Denmark.en
dc.identifier.affiliationDepartment of Neurology, Centro Hospitalar São João, Porto, Portugal.en
dc.identifier.affiliationNeurogenetic Clinic, Child Neurology Institute, Schneider Children's Medical Center of Israel, Petah Tiqvah, Israel.en
dc.identifier.affiliationNeurology Unit, IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy.en
dc.identifier.affiliationDepartment of Clinical Medicine, University of Bergen, Bergen, Norway.en
dc.identifier.affiliationDepartment of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy.en
dc.identifier.affiliationDepartment of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.en
dc.identifier.affiliationDepartment of Anatomy and Cell Biology, University of Malta, Msida, Malta.en
dc.identifier.affiliationDepartment of Neurology, Temple Street Children's University Hospital, Dublin, Ireland.en
dc.identifier.affiliationDepartment of Neurology and Epileptology, Epilepsy Center Hamburg-Alsterdorf, Hamburg, Germany.en
dc.identifier.affiliationProgram in Genetics and Genomics, Biological and Biomedical Sciences, Harvard Medical School, Boston, Massachusetts, USAen
dc.identifier.affiliationWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UKen
dc.identifier.affiliationPsychiatric and Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts, USAen
dc.identifier.affiliationProgram in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USAen
dc.identifier.affiliationFlorey Institute of Neuroscience and Mental Health, University of Melbourne, Melbourne, Victoria, Australiaen
dc.identifier.affiliationAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USAen
dc.identifier.affiliationDepartment of Neurology, University of Miami Miller School of Medicine, Miami, Florida, USAen
dc.identifier.affiliationCentre for Neural Engineering, University of Melbourne, Melbourne, Victoria, Australiaen
dc.identifier.affiliationInstitute of Regional Health Services Research, University of Southern Denmark, Odense, Denmark.en
dc.identifier.affiliationDepartment of Clinical Neurosciences and Mental Health, Faculty of Medicine, University of Porto, Porto, Portugal.en
dc.identifier.affiliationSackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israel.en
dc.identifier.affiliationZlotowski Center for Neuroscience, Ben-Gurion University, Beer-Sheva, Israel.en
dc.identifier.affiliationPediatric Neurology Unit, Edmond and Lilly Safra Children's Hospital, Sheba Medical Center, Ramat-Gan, Israel.en
dc.identifier.affiliationDepartment of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.en
dc.identifier.affiliationDepartment of Neurology, Haukeland University Hospital, Bergen, Norway.en
dc.identifier.affiliationRegional Epilepsy Center, Bianchi-Melacrino-Morelli Hospital, Reggio Calabria, Italy.en
dc.identifier.affiliationEpilepsy Center (EPIMER), Istanbul University, Istanbul, Turkey.en
dc.identifier.affiliationSection of Medical Genetics, Mater dei Hospital, Msida, Malta.en
dc.identifier.affiliationAcademic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.en
dc.identifier.affiliationStanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USAen
dc.identifier.affiliationDepartment of Pediatrics, Royal Children's Hospital, University of Melbourne, Melbourne, Victoria, Australiaen
dc.identifier.affiliationFolkhälsan Institute of Genetics, Helsinki, Finland.en
dc.identifier.affiliationDepartment of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.en
dc.identifier.affiliationGerman Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.en
dc.identifier.affiliationNeuroscience Center, University of Helsinki, Helsinki, Finland.en
dc.identifier.affiliationDepartment of Neurophysiopathology, C. Besta Foundation Neurological Institute, Istituto di Ricerca e Cura a Carattere Scientifico (IRCCS), Milan, Italy.en
dc.identifier.affiliationInstitute of Neurology, University Magna Graecia, Catanzaro, Italy.en
dc.identifier.affiliationDepartment of Neurosciences, Reproductive Sciences and Odontostomatology, Federico II University, Naples, Italy.en
dc.identifier.affiliationDepartment of Biotechnology and Informatics, Balochistan University of Information Technology, Engineering and Management Sciences, Quetta, Pakistan.en
dc.identifier.affiliationDepartment of Medicine, Mayo Hospital, Lahore, Pakistan.en
dc.identifier.affiliationDivision of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.en
dc.identifier.affiliationNeurology Unit, IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy.en
dc.identifier.affiliationDepartment of Neurology, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey.en
dc.identifier.affiliationEpilepsy Unit, Hôpital Gui de Chauliac, Montpellier, France.en
dc.identifier.affiliationDepartment of Neurology and Epileptology, Epilepsy Center Hamburg-Alsterdorf, Hamburg, Germany.en
dc.identifier.affiliationDevelopmental Neurology Unit, C. Besta Foundation Neurological Institute, IRCCS, Milan, Italy.en
dc.identifier.affiliationKlinikum Links der Weser, Bremen, Germany.en
dc.identifier.affiliationDepartment of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.en
dc.identifier.doi10.1038/ng.3144en
dc.description.pages39-46en
dc.relation.urlhttps://pubmed.ncbi.nlm.nih.gov/25401298en
dc.type.austinJournal Articleen
local.name.researcherBerkovic, Samuel F
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.cerifentitytypePublications-
item.fulltextNo Fulltext-
item.grantfulltextnone-
item.languageiso639-1en-
item.openairetypeJournal Article-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptNeurology-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptMedicine (University of Melbourne)-
crisitem.author.deptEpilepsy Research Centre-
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