Publications by authors named "Elena V Gazina"

20Publications

SCN1A gain of function in early infantile encephalopathy.

Ann Neurol 2019 04 7;85(4):514-525. Epub 2019 Mar 7.

Ion Channels and Disease Group, Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1002/ana.25438DOI Listing
April 2019

Development of a rapid functional assay that predicts GLUT1 disease severity.

Neurol Genet 2018 Dec 6;4(6):e297. Epub 2018 Dec 6.

Florey Institute of Neuroscience and Mental Health (S.M.Z., S.A.M., S.M., E.V.G., A.M.P., G.D.J., I.E.S., C.A.R., S. Petrou.); Department of Medicine (RMH) University of Melbourne (S.M.Z., S. Petrovski, M.S.H., J.D., S. Petrou); Department of Medicine (Austin Health) (M.S.H., J.D., S.F.B., I.E.S.), University of Melbourne, Heidelberg; Department of Neurology and Epileptology (H.L., Y.G.W.), Hertie Institute for Clinical Brain Research, University of Tübingen; School of Biosciences (A.M.P.), University of Melbourne, Parkville, Australia; APHP (S.A.), Hôpital Robert Debré, Service de Neurologie Pédiatrique; Univ Paris Diderot (S.A.), Sorbonne Paris Cité, INSERM UMR1141, Paris, France; and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Parkville, Australia.

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http://ng.neurology.org/lookup/doi/10.1212/NXG.0000000000000
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http://dx.doi.org/10.1212/NXG.0000000000000297DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6290489PMC
December 2018

Clinical and molecular characterization of -related severe early-onset epilepsy.

Neurology 2018 01 1;90(1):e55-e66. Epub 2017 Dec 1.

From Molecular Neurosciences (A.M., E.M., A., A.N., M.A.K.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health; Department of Neurology (A.M., A., A.N., C.E., J.H.C., M.A.K.) and Neuroradiology (W.K.C.), Great Ormond Street Hospital for Children, London, UK; Florey Institute of Neuroscience and Mental Health (U.N., E.V.G., I.E.S., S.P.), Melbourne, Australia; Department of Biological Sciences (S.M., M.T.), Institute of Structural and Molecular Biology, Birkbeck College, University of London; Regional Molecular Genetics Laboratory (N.T., R.H.S.), North East Thames Regional Genetics Service, and Department of Clinical Genetics (A.V.K., R.H.S.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (S.A.), Red Cross War Memorial Children's Hospital, Cape Town, South Africa; Department of Paediatric Neurology (G.A.), Addenbrooke's Hospital, Cambridge; Roald Dahl EEG Unit (R.A.), Department of Neurology, and Department of Neurology (R.K.), Alder Hey Children's Hospital, Liverpool; Department of Paediatric Neurology (A.D.), Sheffield Children's Hospital; Clinical Neurosciences (C.E., J.H.C.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London; Institute of Infection and Global Health (R.K.), University of Liverpool; Department of Paediatric Neurology (K.L.), Evelina Children's Hospital, Guys and St. Thomas' NHS Foundation Trust, London; Department of Clinical Genetics (T.M.), Northern Genetics Service; Department of Pediatric Neurology (V.R.), Great North Children's Hospital, Newcastle Upon Tyne; Department of Paediatric Neurology (R.S.), University Hospital Leicester Children's Hospital; Department of Paediatric Neurology (J.T.), Royal Manchester Children's Hospital; Department of Paediatric Neurology (W.W.), Nottingham University Hospitals NHS Trust, UK; Epilepsy Genetics Program (A. Poduri), Department of Neurology, Boston Children's Hospital; Department of Neurology (A. Poduri), Harvard Medical School, Boston, MA; University of Melbourne (I.E.S.), Austin Health and Royal Children's Hospital, Australia; and Department of Medicine (S.P.), Royal Melbourne Hospital, University of Melbourne, Australia. Dr. Malhotra is currently at the Department of Biochemistry, University of Cambridge, UK.

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http://dx.doi.org/10.1212/WNL.0000000000004762DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5754647PMC
January 2018

Method of derivation and differentiation of mouse embryonic stem cells generating synchronous neuronal networks.

J Neurosci Methods 2018 Jan 18;293:53-58. Epub 2017 Aug 18.

The Florey Institute of Neuroscience and Mental Health, Parkville, VIC 3052, Australia; Centre for Neural Engineering, The University of Melbourne, Parkville, VIC 3052, Australia. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01650270173029
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http://dx.doi.org/10.1016/j.jneumeth.2017.08.018DOI Listing
January 2018

Electrophysiological and gene expression characterization of the ontogeny of nestin-expressing cells in the adult mouse midbrain.

Stem Cell Res 2017 08 4;23:143-153. Epub 2017 Jul 4.

Florey Institute of Neuroscience & Mental Health, The University of Melbourne, Parkville, Victoria 3010, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2017.07.001DOI Listing
August 2017

Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.

Neurology 2016 Nov 12;87(19):1975-1984. Epub 2016 Oct 12.

From the School of Medicine and Robinson Research Institute (M.A.C., R.C., J.G.) and School of Biological Sciences (J.G.), The University of Adelaide; Epilepsy Research Centre, Department of Medicine (S.T.B., S. Micallef, S.F.B., I.E.S.), University of Melbourne, Austin Health, Heidelberg; Florey Institute of Neuroscience and Mental Health (M.L., S. Maljevic, E.V.G., S.P., I.E.S.), Melbourne; Division of Genetic Medicine, Department of Pediatrics (G.L.C., C.T.M., H.C.M.), University of Washington, Seattle; Department of Neurology (K.B.H., I.E.S.), Royal Children's Hospital; Neurosciences Group (K.B.H.), Murdoch Childrens Research Institute, Melbourne; Department of Paediatrics (K.B.H.), University of Melbourne, Royal Children's Hospital, Parkville, Australia; Department of Neurology and Epileptology (S. Maljevic, H.L.), Hertie Institute for Clinical Brain Research, University of Tübingen, Germany; The Walter and Eliza Hall Institute of Medical Research (M.B.); Department of Medical Biology (M.B.), The University of Melbourne, Parkville; and Department of Medicine, Royal Melbourne Hospital (S.P.), The University of Melbourne, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000003309DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5109949PMC
November 2016

A targeted resequencing gene panel for focal epilepsy.

Neurology 2016 Apr 30;86(17):1605-12. Epub 2016 Mar 30.

From the Epilepsy Research Centre (M.S.H., B.M.R., J.A.D., S.A.M., M.R.N., I.E.S., S.F.B.), Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, Australia; Division of Genetic Medicine (C.T.M., G.L.C., H.C.M.), Department of Pediatrics, University of Washington, Seattle, WA; Florey Institute for Neuroscience and Mental Health (U.N., E.V.G., C.J.M., C.A.R., S.P., I.E.S.), University of Melbourne, Melbourne, Victoria, Australia; Department of Neurology (I.E.S.), Royal Children's Hospital, Parkville, Melbourne, Victoria, Australia; and Department of Pediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://www.neurology.org/content/early/2016/03/30/WNL.000000
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000260
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http://dx.doi.org/10.1212/WNL.0000000000002608DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4844234PMC
April 2016

'Neonatal' Nav1.2 reduces neuronal excitability and affects seizure susceptibility and behaviour.

Hum Mol Genet 2015 Mar 6;24(5):1457-68. Epub 2014 Nov 6.

The Florey Institute of Neuroscience and Mental Health, Parkville VIC 3052, Australia Centre for Neural Engineering, University of Melbourne, Parkville VIC 3052, Australia

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http://dx.doi.org/10.1093/hmg/ddu562DOI Listing
March 2015

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.

Neurology 2014 Apr 12;82(14):1245-53. Epub 2014 Mar 12.

From the Division of Genetic Medicine, Department of Pediatrics (G.L.C., C.H., J.C., E.G., H.C.M.), and the Department of Genome Sciences (J.S.), University of Washington, Seattle; Neurogenetics Group (S.W.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Epilepsy Research Centre (J.M.M., S.F.B., I.E.S.), Department of Medicine, University of Melbourne, Austin Health, Australia; Department of Neuropediatrics (C.H., H.M., S.v.S., I.H.), University Medical Center, Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany; Danish Epilepsy Centre (R.S.M., H.H., M.N.), Dianalund; Institute for Regional Health Services (H.H., M.N.), University of Southern Denmark, Odense, Denmark; Department of Molecular and Medical Genetics (B.J.O.), Oregon Health and Science University, Portland; Florey Institute (S.P., A.C., E.V.G., I.E.S.), Victoria; TY Nelson Department of Neurology (D.G.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Paediatrics (L.G.S.), School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand; Epilepsy Research Program (B.L.H., L.M.D.), School of Pharmacy and Medical Sciences, University of South Australia, Adelaide; Division of Neurology (P.D.J.), Antwerp University Hospital, Belgium; and the Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Australia.

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http://www.washington.edu/medicine/pediatrics/meflab/doc/201
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000029
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http://dx.doi.org/10.1212/WNL.0000000000000291DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4001207PMC
April 2014

Computational Analysis of Amiloride Analogue Inhibitors of B3 RNA Polymerase.

J Proteomics Bioinform 2014 12;Suppl 9:004. Epub 2014 Aug 12.

Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Victoria 3010, Australia.

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http://omicsonline.org/open-access/computational-analysis-of
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http://dx.doi.org/10.4172/jpb.S9-004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4610404PMC
August 2014

Viral targets of acylguanidines.

Drug Discov Today 2012 Sep 8;17(17-18):1039-43. Epub 2012 May 8.

Florey Neuroscience Institutes, The University of Melbourne, Victoria 3010, Australia.

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http://dx.doi.org/10.1016/j.drudis.2012.05.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7108427PMC
September 2012

Heat opens axon initial segment sodium channels: a febrile seizure mechanism?

Ann Neurol 2009 Aug;66(2):219-26

Howard Florey Institute, University of Melbourne, Parkville, Australia.

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http://dx.doi.org/10.1002/ana.21712DOI Listing
August 2009

Amiloride derivatives inhibit coxsackievirus B3 RNA replication.

J Virol 2008 Feb 21;82(3):1465-73. Epub 2007 Nov 21.

Howard Florey Institute, The University of Melbourne, Victoria 3010, Australia.

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http://dx.doi.org/10.1128/JVI.01374-07DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2224459PMC
February 2008

A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel.

Mol Cell Neurosci 2007 Jun 13;35(2):292-301. Epub 2007 Mar 13.

Howard Florey Institute, The University of Melbourne, Parkville, Victoria, 3010, Melbourne, Australia.

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http://dx.doi.org/10.1016/j.mcn.2007.03.003DOI Listing
June 2007

Ion transport blockers inhibit human rhinovirus 2 release.

Antiviral Res 2005 Aug;67(2):98-106

Howard Florey Institute, The University of Melbourne, Vic. 3010, Australia.

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http://dx.doi.org/10.1016/j.antiviral.2005.05.003DOI Listing
August 2005

Differential requirements for COPI coats in formation of replication complexes among three genera of Picornaviridae.

J Virol 2002 Nov;76(21):11113-22

Macfarlane Burnet Institute for Medical Research and Public Health, Melbourne, Victoria 3004, Australia.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC136594PMC
http://dx.doi.org/10.1128/jvi.76.21.11113-11122.2002DOI Listing
November 2002