Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/19500
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dc.contributor.authorOliver, Karen L-
dc.contributor.authorFranceschetti, Silvana-
dc.contributor.authorMilligan, Carol J-
dc.contributor.authorMuona, Mikko-
dc.contributor.authorMandelstam, Simone A-
dc.contributor.authorCanafoglia, Laura-
dc.contributor.authorBoguszewska-Chachulska, Anna M-
dc.contributor.authorKorczyn, Amos D-
dc.contributor.authorBisulli, Francesca-
dc.contributor.authorDi Bonaventura, Carlo-
dc.contributor.authorRagona, Francesca-
dc.contributor.authorMichelucci, Roberto-
dc.contributor.authorBen-Zeev, Bruria-
dc.contributor.authorStraussberg, Rachel-
dc.contributor.authorPanzica, Ferruccio-
dc.contributor.authorMassano, João-
dc.contributor.authorFriedman, Daniel-
dc.contributor.authorCrespel, Arielle-
dc.contributor.authorEngelsen, Bernt A-
dc.contributor.authorAndermann, Frederick-
dc.contributor.authorAndermann, Eva-
dc.contributor.authorSpodar, Krystyna-
dc.contributor.authorLasek-Bal, Anetta-
dc.contributor.authorRiguzzi, Patrizia-
dc.contributor.authorPasini, Elena-
dc.contributor.authorTinuper, Paolo-
dc.contributor.authorLicchetta, Laura-
dc.contributor.authorGardella, Elena-
dc.contributor.authorLindenau, Matthias-
dc.contributor.authorWulf, Annette-
dc.contributor.authorMøller, Rikke S-
dc.contributor.authorBenninger, Felix-
dc.contributor.authorAfawi, Zaid-
dc.contributor.authorRubboli, Guido-
dc.contributor.authorReid, Christopher A-
dc.contributor.authorMaljevic, Snezana-
dc.contributor.authorLerche, Holger-
dc.contributor.authorLehesjoki, Anna-Elina-
dc.contributor.authorPetrou, Steven-
dc.contributor.authorBerkovic, Samuel F-
dc.date.accessioned2018-09-20T07:50:44Z-
dc.date.available2018-09-20T07:50:44Z-
dc.date.issued2017-05-
dc.identifier.citationAnnals of neurology 2017; 81(5): 677-689-
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/19500-
dc.description.abstractTo comprehensively describe the new syndrome of myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK), including cellular electrophysiological characterization of observed clinical improvement with fever. We analyzed clinical, electroclinical, and neuroimaging data for 20 patients with MEAK due to recurrent KCNC1 p.R320H mutation. In vitro electrophysiological studies were conducted using whole cell patch-clamp to explore biophysical properties of wild-type and mutant KV 3.1 channels. Symptoms began at between 3 and 15 years of age (median = 9.5), with progressively severe myoclonus and rare tonic-clonic seizures. Ataxia was present early, but quickly became overshadowed by myoclonus; 10 patients were wheelchair-bound by their late teenage years. Mild cognitive decline occurred in half. Early death was not observed. Electroencephalogram (EEG) showed generalized spike and polyspike wave discharges, with documented photosensitivity in most. Polygraphic EEG-electromyographic studies demonstrated a cortical origin for myoclonus and striking coactivation of agonist and antagonist muscles. Magnetic resonance imaging revealed symmetrical cerebellar atrophy, which appeared progressive, and a prominent corpus callosum. Unexpectedly, transient clinical improvement with fever was noted in 6 patients. To explore this, we performed high-temperature in vitro recordings. At elevated temperatures, there was a robust leftward shift in activation of wild-type KV 3.1, increasing channel availability. MEAK has a relatively homogeneous presentation, resembling Unverricht-Lundborg disease, despite the genetic and biological basis being quite different. A remarkable improvement with fever may be explained by the temperature-dependent leftward shift in activation of wild-type KV 3.1 subunit-containing channels, which would counter the loss of function observed for mutant channels, highlighting KCNC1 as a potential target for precision therapeutics. Ann Neurol 2017;81:677-689.-
dc.language.isoeng-
dc.titleMyoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties.-
dc.typeJournal Article-
dc.identifier.journaltitleAnnals of neurology-
dc.identifier.affiliationCentre for Neural Engineering, Department of Electrical Engineering, University of Melbourne, Parkville, Victoria, Australiaen
dc.identifier.affiliationDepartment of Neurology, Rabin Medical Center, Beilinson Hospital, Petah Tikvah, Israelen
dc.identifier.affiliationDanish Epilepsy Center, Filadelfia/University of Copenhagen, Dianalund, Denmarken
dc.identifier.affiliationUniversity of Tübingen, Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tübingen, Germanyen
dc.identifier.affiliationEpilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australiaen
dc.identifier.affiliationDepartment of Neurophysiology, C. Besta Neurological Institute IRCCS Foundation, Milan, Italyen
dc.identifier.affiliationIon Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australiaen
dc.identifier.affiliationInstitute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finlanden
dc.identifier.affiliationFolkhälsan Institute of Genetics, Helsinki, Finlanden
dc.identifier.affiliationResearch Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finlanden
dc.identifier.affiliationNeuroscience Center, University of Helsinki, Helsinki, Finlanden
dc.identifier.affiliationFlorey Institute of Neuroscience and Mental Health, Melbourne, Victoria, Australiaen
dc.identifier.affiliationDepartments of Paediatrics and Radiology, University of Melbourne, Melbourne, Victoria, Australiaen
dc.identifier.affiliationDepartment of Medical Imaging, Royal Children's Hospital, Melbourne, Victoria, Australiaen
dc.identifier.affiliationGenomed Health Care Center, Genomed, Warsaw, Polanden
dc.identifier.affiliationSackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israelen
dc.identifier.affiliationIRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italyen
dc.identifier.affiliationDepartment of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italyen
dc.identifier.affiliationDepartment of Neurological Sciences, University of Rome, La Sapienza, Rome, Italyen
dc.identifier.affiliationDepartment of Pediatric Neuroscience, C. Besta Neurological Institute IRCCS Foundation, Milan, Italyen
dc.identifier.affiliationUnit of Neurology, Bellaria Hospital, Bologna, Italyen
dc.identifier.affiliationEdmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israelen
dc.identifier.affiliationEpilepsy Unit, Schneider Children's Medical Center of Israel, Petah Tikvah, Israelen
dc.identifier.affiliationDepartment of Neurology, Hospital Pedro Hispano/ULS Matosinhos, Senhora da Hora, Portugalen
dc.identifier.affiliationDepartment of Clinical Neurosciences and Mental Health, Faculty of Medicine, University of Porto, Porto, Portugalen
dc.identifier.affiliationComprehensive Epilepsy Center, New York University Langone Medical Center, New York, NYen
dc.identifier.affiliationEpilepsy Unit, Gui de Chauliac Hospital, Montpellier, Franceen
dc.identifier.affiliationDepartment of Clinical Medicine, University of Bergen, Bergen, Norwayen
dc.identifier.affiliationEpilepsy Research Group, Montreal Neurological Hospital and Institute, Montreal, Quebec, Canadaen
dc.identifier.affiliationDepartments of Neurology & Neurosurgery and Paediatrics, McGill University, Montreal, Quebec, Canadaen
dc.identifier.affiliationNeurogenetics Unit and Epilepsy Research Group, Montreal Neurological Hospital and Institute, Montreal, Quebec, Canadaen
dc.identifier.affiliationDepartments of Neurology & Neurosurgery and Human Genetics, McGill University, Montreal, Quebec, Canadaen
dc.identifier.affiliationHigh School of Science, Medical University of Silesia, Department of Neurology, Upper Silesian Medical Center, Katowice, Polanden
dc.identifier.affiliationDanish Epilepsy Center, Dianalund, Denmarken
dc.identifier.affiliationInstitute for Regional Health Research, University of Southern Denmark, Odense, Denmarken
dc.identifier.affiliationDepartment of Neurology and Epileptology, Epilepsy Center Hamburg-Alsterdorf, Hamburg, Germanyen
dc.identifier.doi10.1002/ana.24929-
dc.identifier.orcid0000-0003-4580-841X-
dc.identifier.pubmedid28380698-
dc.type.austinJournal Article-
local.name.researcherBerkovic, Samuel F
item.fulltextNo Fulltext-
item.openairetypeJournal Article-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.grantfulltextnone-
item.languageiso639-1en-
item.cerifentitytypePublications-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptNeurology-
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