Snezana Maljevic

Snezana Maljevic

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Snezana Maljevic

Snezana Maljevic

Publications by authors named "Snezana Maljevic"

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Using a Multiplex Nucleic Acid Hybridization Technique to Determine HCN4 mRNA Expression in the Adult Rodent Brain.

Front Mol Neurosci 2019 28;12:211. Epub 2019 Aug 28.

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

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http://dx.doi.org/10.3389/fnmol.2019.00211DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6724756PMC
August 2019

Spectrum of GABAA receptor variants in epilepsy.

Curr Opin Neurol 2019 04;32(2):183-190

Department of Neurology and Epileptology, Hertie Institute of Clinical Brain Research, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1097/WCO.0000000000000657DOI Listing
April 2019

SCN1A gain of function in early infantile encephalopathy.

Ann Neurol 2019 Apr 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

Rare coding variants in genes encoding GABA receptors in genetic generalised epilepsies: an exome-based case-control study.

Authors:
Patrick May Simon Girard Merle Harrer Dheeraj R Bobbili Julian Schubert Stefan Wolking Felicitas Becker Pamela Lachance-Touchette Caroline Meloche Micheline Gravel Cristina E Niturad Julia Knaus Carolien De Kovel Mohamad Toliat Anne Polvi Michele Iacomino Rosa Guerrero-López Stéphanie Baulac Carla Marini Holger Thiele Janine Altmüller Kamel Jabbari Ann-Kathrin Ruppert Wiktor Jurkowski Dennis Lal Raffaella Rusconi Sandrine Cestèle Benedetta Terragni Ian D Coombs Christopher A Reid Pasquale Striano Hande Caglayan Auli Siren Kate Everett Rikke S Møller Helle Hjalgrim Hiltrud Muhle Ingo Helbig Wolfram S Kunz Yvonne G Weber Sarah Weckhuysen Peter De Jonghe Sanjay M Sisodiya Rima Nabbout Silvana Franceschetti Antonietta Coppola Maria S Vari Dorothée Kasteleijn-Nolst Trenité Betul Baykan Ugur Ozbek Nerses Bebek Karl M Klein Felix Rosenow Dang K Nguyen François Dubeau Lionel Carmant Anne Lortie Richard Desbiens Jean-François Clément Cécile Cieuta-Walti Graeme J Sills Pauls Auce Ben Francis Michael R Johnson Anthony G Marson Bianca Berghuis Josemir W Sander Andreja Avbersek Mark McCormack Gianpiero L Cavalleri Norman Delanty Chantal Depondt Martin Krenn Fritz Zimprich Sarah Peter Marina Nikanorova Robert Kraaij Jeroen van Rooij Rudi Balling M Arfan Ikram André G Uitterlinden Giuliano Avanzini Stephanie Schorge Steven Petrou Massimo Mantegazza Thomas Sander Eric LeGuern Jose M Serratosa Bobby P C Koeleman Aarno Palotie Anna-Elina Lehesjoki Michael Nothnagel Peter Nürnberg Snezana Maljevic Federico Zara Patrick Cossette Roland Krause Holger Lerche

Lancet Neurol 2018 08 17;17(8):699-708. Epub 2018 Jul 17.

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http://dx.doi.org/10.1016/S1474-4422(18)30215-1DOI Listing
August 2018

Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies.

Pharmacol Rev 2018 01;70(1):142-173

The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Melbourne, Australia (J.O., S.M., I.E.S., S.P., C.A.R.); Department of Medicine, Austin Health, University of Melbourne, Heidelberg West, Melbourne, Australia (I.E.S., S.F.B.); and Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Australia (I.E.S.)

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http://dx.doi.org/10.1124/pr.117.014456DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5738717PMC
January 2018

Models for discovery of targeted therapy in genetic epileptic encephalopathies.

J Neurochem 2017 10 5;143(1):30-48. Epub 2017 Sep 5.

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

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http://dx.doi.org/10.1111/jnc.14134DOI Listing
October 2017

Functional variants in and may contribute to genetic generalized epilepsy.

Epilepsia Open 2017 09 5;2(3):334-342. Epub 2017 Aug 5.

Department of Neurology and Epileptology Hertie-Institute for Clinical Brain-Research University of Tübingen Tübingen Germany.

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http://dx.doi.org/10.1002/epi4.12068DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5862120PMC
September 2017

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

Neurology 2017 01 4;88(5):483-492. Epub 2017 Jan 4.

From the Danish Epilepsy Centre (R.S.M., K.M.J., M.N.), Dianalund; Institute for Regional Health Services (R.S.M., K.M.J., M.N.), University of Southern Denmark, Odense; Department of Neurology and Epileptology (T.V.W., S.V., H.L., S.M.), Hertie Institute for Clinical Brain Research, and Department of Neurosurgery (T.V.W.), University of Tübingen; Department of Neuropediatrics (I.H., M.P., S.v.S., H.M.), University Medical Center Schleswig-Holstein, Kiel, Germany; Division of Neurology (I.H., S.H., H.D.), The Children's Hospital of Philadelphia, PA; Neuroscience Department (C.M., R.G.), Children's Hospital Anna Meyer-University of Florence, Italy; Department of Genetics (E.H.B., M.S., K.L.v.G.), University Medical Center Utrecht, the Netherlands; Department of Neurology and Neurorehabilitation (U.V., I.T., T.T.), Children's Clinic of Tartu University Hospital, Estonia; Department of Pediatric Neurology and Epilepsy Center (I.B.), LMU Munich, Germany; Department of Pediatrics (I.T., T.T.), University of Tartu; Tallinn Children's Hospital (I.T.), Tallinn, Estonia; Clinic for Neuropediatrics and Neurorehabilitation (G.K., C.B., H.H.), Epilepsy Center for Children and Adolescents, Schön Klinik Vogtareuth, Germany; Paracelsus Medical Private University (G.K.), Salzburg, Austria; Neuropeadiatric Department (L.L.F.), Hospices Civils de Lyon; Department of Genetics (G.L., N.C.), Lyon University Hospitals; Claude Bernard Lyon I University (G.L., N.C.); Lyon Neuroscience Research Centre (G.L., N.C.), CNRS UMR5292, INSERM U1028; Epilepsy, Sleep and Pediatric Neurophysiology Department (J.d.B.), Lyon University Hospitals, France; Clinic for Pediatric Neurology (S.B.), Pediatric Department, University Hospital, Herlev, Denmark; Kleinwachau (N.H.), Sächsisches Epilepsiezentrum Radeberg, Dresden; Department of Neuropediatrics/Epilepsy Center (J.J.), University Medical Center Freiburg; Department of General Paediatrics (S.S.), Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg; Department of Women and Child Health (S.S.), Hospital for Children and Adolescents, University of Leipzig Hospitals and Clinics, Germany; Department of Pediatrics (C.T.M., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Amplexa Genetics (L.H.G.L., H.A.D.), Odense, Denmark; Northern German Epilepsy Center for Children and Adolescents (S.v.S.), Schwentinental-Raisdorf, Germany; Wilhelm Johannsen Centre for Functional Genome Research (Y.M., N.T.), Department of Cellular and Molecular Medicine, University of Copenhagen; Danish Epilepsy Center (G.R.), Filadelfia/University of Copenhagen, Denmark; Department of Diagnostics (J.R.L.), Institute of Human Genetics, University of Leipzig; and Svt. Luka's Institute of Child Neurology and Epilepsy (K.M.), Moscow, Russia. Dr Maljevic is currently at the Florey Institute of Neuroscience and Mental Health, Melbourne, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000003565DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5278942PMC
January 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

Novel Mutation in a Large Family with Benign Familial Neonatal Epilepsy: A Rare Cause of Neonatal Seizures.

Mol Syndromol 2016 Sep 7;7(4):189-196. Epub 2016 Jul 7.

Department of Women and Child Health, Hospital for Children and Adolescents, Heidelberg, Germany; Division of Child Neurology and Inherited Metabolic Diseases, Department of General Pediatrics, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.

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https://www.karger.com/Article/FullText/447461
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http://dx.doi.org/10.1159/000447461DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5073621PMC
September 2016

Potassium channel genes and benign familial neonatal epilepsy.

Prog Brain Res 2014 ;213:17-53

Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1016/B978-0-444-63326-2.00002-8DOI Listing
April 2015

Zebrafish bioassay-guided microfractionation identifies anticonvulsant steroid glycosides from the Philippine medicinal plant Solanum torvum.

ACS Chem Neurosci 2014 Oct 8;5(10):993-1004. Epub 2014 Sep 8.

School of Pharmaceutical Sciences, University of Geneva, University of Lausanne , 30, quai Ernest-Ansermet, CH-1211 Geneva 4, Switzerland.

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http://dx.doi.org/10.1021/cn5001342DOI Listing
October 2014

Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.

Ann Neurol 2014 Mar 18;75(3):382-94. Epub 2014 Mar 18.

Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1002/ana.24080DOI Listing
March 2014

Potassium channels: a review of broadening therapeutic possibilities for neurological diseases.

J Neurol 2013 Sep 11;260(9):2201-11. Epub 2012 Nov 11.

Department of Neurology and Epileptology, Hertie-Institute of Clinical Brain Research, University of Tübingen, Hoppe-Seyer-Str. 3, 72076 Tübingen, Germany.

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http://link.springer.com/10.1007/s00415-012-6727-8
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http://dx.doi.org/10.1007/s00415-012-6727-8DOI Listing
September 2013

An SCN2A mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na(+) current.

Epilepsia 2013 Sep 12;54(9):e117-21. Epub 2013 Jun 12.

Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany.

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http://dx.doi.org/10.1111/epi.12241DOI Listing
September 2013

A conserved threonine in the S1-S2 loop of KV7.2 and K V7.3 channels regulates voltage-dependent activation.

Pflugers Arch 2013 Jun 28;465(6):797-804. Epub 2012 Dec 28.

Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Otfried Müller-Str. 27, 72076, Tübingen, Germany.

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http://dx.doi.org/10.1007/s00424-012-1184-xDOI Listing
June 2013

KV7 channelopathies.

Pflugers Arch 2010 Jul 18;460(2):277-88. Epub 2010 Apr 18.

Department of Neurology and Epileptology, Center for Neurology, Hertie Institute for Clinical Brain Research, University Hospital Tübingen, Hoppe-Seyler-Str. 3, 72076, Tübingen, Germany.

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http://dx.doi.org/10.1007/s00424-010-0831-3DOI Listing
July 2010

Nervous system KV7 disorders: breakdown of a subthreshold brake.

J Physiol 2008 Apr 31;586(7):1791-801. Epub 2008 Jan 31.

Neurologische Klinik und Institut für Angewandte Physiologie, Universität Ulm, Zentrum Klinische Forschung, Helmholtzstr. 8/1, D-89081 Ulm, Germany.

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http://dx.doi.org/10.1113/jphysiol.2008.150656DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2375730PMC
April 2008

Subthreshold changes of voltage-dependent activation of the K(V)7.2 channel in neonatal epilepsy.

Neurobiol Dis 2006 Oct 17;24(1):194-201. Epub 2006 Aug 17.

Department of Human Genetics, Emory University, 615 Michael Street, Whitehead Building, Suite 301, Atlanta, Georgia 30322, USA.

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http://dx.doi.org/10.1016/j.nbd.2006.06.011DOI Listing
October 2006

Molecular analysis of the A322D mutation in the GABA receptor alpha-subunit causing juvenile myoclonic epilepsy.

Eur J Neurosci 2005 Jul;22(1):10-20

Neurologische Klinik, Medizinische Hochschule Hannover, Carl-Neuberg-Str. 1, 30625 Hannover, Germany.

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http://dx.doi.org/10.1111/j.1460-9568.2005.04168.xDOI Listing
July 2005

The new anticonvulsant retigabine favors voltage-dependent opening of the Kv7.2 (KCNQ2) channel by binding to its activation gate.

Mol Pharmacol 2005 Apr 20;67(4):1009-17. Epub 2005 Jan 20.

Neurologische Klinik/Abteilung Angewandte Physiologie, Universität Ulm, Zentrum Klinische Forschung, Helmholtzstrasse 8/1, 89081 Ulm, Germany.

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http://molpharm.aspetjournals.org/content/67/4/1009.full.pdf
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http://molpharm.aspetjournals.org/cgi/doi/10.1124/mol.104.01
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http://dx.doi.org/10.1124/mol.104.010793DOI Listing
April 2005

C-terminal interaction of KCNQ2 and KCNQ3 K+ channels.

J Physiol 2003 Apr 14;548(Pt 2):353-60. Epub 2003 Mar 14.

Department of Applied Physiology, University of Ulm, Germany.

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http://dx.doi.org/10.1113/jphysiol.2003.040980DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2342851PMC
April 2003