Publications by authors named "Stephanie Schorge"

56Publications

Recent advances in gene therapy for neurodevelopmental disorders with epilepsy.

J Neurochem 2020 Sep 2. Epub 2020 Sep 2.

Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.

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http://dx.doi.org/10.1111/jnc.15168DOI Listing
September 2020

Epilepsy Gene Therapy Using an Engineered Potassium Channel.

J Neurosci 2019 04 12;39(16):3159-3169. Epub 2019 Feb 12.

Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, United Kingdom.

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http://dx.doi.org/10.1523/JNEUROSCI.1143-18.2019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6468110PMC
April 2019

Semiology, clustering, periodicity and natural history of seizures in an experimental occipital cortical epilepsy model.

Dis Model Mech 2018 12 14;11(12). Epub 2018 Dec 14.

Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK

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http://dx.doi.org/10.1242/dmm.036194DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6307909PMC
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

Biochemical autoregulatory gene therapy for focal epilepsy.

Nat Med 2018 09 9;24(9):1324-1329. Epub 2018 Jul 9.

Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, University College London, London, UK.

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http://dx.doi.org/10.1038/s41591-018-0103-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6152911PMC
September 2018

Spared CA1 pyramidal neuron function and hippocampal performance following antisense knockdown of microRNA-134.

Epilepsia 2018 08 5;59(8):1518-1526. Epub 2018 Jul 5.

Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, London, UK.

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http://dx.doi.org/10.1111/epi.14475DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6099438PMC
August 2018

Channelopathies go above and beyond the channels.

Neuropharmacology 2018 04 14;132:1-2. Epub 2018 Feb 14.

Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neuropharm.2018.02.011DOI Listing
April 2018

Personalized translational epilepsy research - Novel approaches and future perspectives: Part I: Clinical and network analysis approaches.

Epilepsy Behav 2017 11 13;76:13-18. Epub 2017 Sep 13.

Epilepsy Center Frankfurt Rhine-Main, Department of Neurology, Center of Neurology and Neurosurgery, Goethe University Frankfurt, 60528 Frankfurt, Germany; Epilepsy Center Marburg, Department of Neurology, Philipps-University Marburg, 35043 Marburg, Germany; Center for Personalized Translational Epilepsy Research (CePTER), 60528 Frankfurt, Germany(1).

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http://dx.doi.org/10.1016/j.yebeh.2017.06.041DOI Listing
November 2017

Personalized translational epilepsy research - Novel approaches and future perspectives: Part II: Experimental and translational approaches.

Epilepsy Behav 2017 11 14;76:7-12. Epub 2017 Sep 14.

Epilepsy Center Frankfurt Rhine-Main, Department of Neurology, Center of Neurology and Neurosurgery, Goethe University Frankfurt, 60528 Frankfurt, Germany; Epilepsy Center Marburg, Department of Neurology, Philipps-University Marburg, 35043 Marburg, Germany; Center for Personalized Translational Epilepsy Research (CePTER), 60528 Frankfurt, Germany(1). Electronic address:

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http://dx.doi.org/10.1016/j.yebeh.2017.06.040DOI Listing
November 2017

Activity Clamp Provides Insights into Paradoxical Effects of the Anti-Seizure Drug Carbamazepine.

J Neurosci 2017 05 4;37(22):5484-5495. Epub 2017 May 4.

Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, WC1N 3BG London, United Kingdom

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http://dx.doi.org/10.1523/JNEUROSCI.3697-16.2017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5452340PMC
May 2017

MicroRNAs in epilepsy: pathophysiology and clinical utility.

Lancet Neurol 2016 Dec;15(13):1368-1376

Epilepsy Center Frankfurt Rhine-Main, Department of Neurology, Goethe-University Frankfurt, Frankfurt, Germany; Epilepsy Center Marburg, Department of Neurology, Philipps University Marburg, Marburg, Germany.

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http://dx.doi.org/10.1016/S1474-4422(16)30246-0DOI Listing
December 2016

Erratum to "Changing channels in pain and epilepsy: Exploiting ion channel gene therapy for disorders of neuronal hyperexcitability" [FEBS Lett. 589 (2015) 1620-1634].

FEBS Lett 2015 Aug;589(18):2429

Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.

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http://dx.doi.org/10.1016/j.febslet.2015.07.001DOI Listing
August 2015

Lentiviral expression of GAD67 and CCK promoter-driven opsins to target interneurons in vitro and in vivo.

J Gene Med 2016 Jan-Mar;18(1-3):27-37

Division of Infection and Immunity, Paul O'Gorman Building, University College London, London, UK.

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http://dx.doi.org/10.1002/jgm.2873DOI Listing
September 2016

Tracks through the genome to physiological events.

Exp Physiol 2015 Dec 19;100(12):1429-40. Epub 2015 Jul 19.

University College London Institute of Neurology, London, UK.

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http://dx.doi.org/10.1113/EP085129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5008151PMC
December 2015

Changing channels in pain and epilepsy: Exploiting ion channel gene therapy for disorders of neuronal hyperexcitability.

FEBS Lett 2015 Jun 12;589(14):1620-34. Epub 2015 May 12.

Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK. Electronic address:

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http://dx.doi.org/10.1016/j.febslet.2015.05.004DOI Listing
June 2015

From treatment to cure: stopping seizures, preventing seizures, and reducing brain propensity to seize.

Int Rev Neurobiol 2014 ;114:279-99

Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/B978-0-12-418693-4.00011-XDOI Listing
March 2015

Chemical-genetic attenuation of focal neocortical seizures.

Nat Commun 2014 May 27;5:3847. Epub 2014 May 27.

Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.

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http://www.nature.com/articles/ncomms4847
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http://dx.doi.org/10.1038/ncomms4847DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4050272PMC
May 2014

Gene therapy in epilepsy-is it time for clinical trials?

Nat Rev Neurol 2014 May 18;10(5):300-4. Epub 2014 Mar 18.

University College London, Department of Clinical and Experimental Epilepsy, Institute of Neurology, Queen Square House, Queen Square, London WC1N 3BG, UK.

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http://dx.doi.org/10.1038/nrneurol.2014.43DOI Listing
May 2014

Gene therapy in status epilepticus.

Epilepsia 2013 Sep;54 Suppl 6:43-5

UCL Institute of Neurology, University College London, Queen Square, London, U.K.

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http://dx.doi.org/10.1111/epi.12275DOI Listing
September 2013

Nongenomic actions of progesterone and 17β-estradiol on the chloride conductance of skeletal muscle.

Muscle Nerve 2013 Oct 30;48(4):589-91. Epub 2013 Aug 30.

Medical Research Council Centre for Neuromuscular Diseases, Box 102, National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, United Kingdom.

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http://doi.wiley.com/10.1002/mus.23887
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http://dx.doi.org/10.1002/mus.23887DOI Listing
October 2013

Tackling obstacles for gene therapy targeting neurons: disrupting perineural nets with hyaluronidase improves transduction.

PLoS One 2013 3;8(1):e53269. Epub 2013 Jan 3.

Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, London, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0053269PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3536767PMC
August 2013

Alternative splicing modulates inactivation of type 1 voltage-gated sodium channels by toggling an amino acid in the first S3-S4 linker.

J Biol Chem 2011 Oct 2;286(42):36700-8. Epub 2011 Sep 2.

Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, London WC1N 3BG, United Kingdom.

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http://dx.doi.org/10.1074/jbc.M111.250225DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3196094PMC
October 2011

Dysfunction of the Ca(V)2.1 calcium channel in cerebellar ataxias.

F1000 Biol Rep 2010 Jan 18;2. Epub 2010 Jan 18.

MRC Centre for Neuromuscular Diseases, Institute of Neurology, University College London Queen Square, London WC1N 3BG UK.

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http://dx.doi.org/10.3410/B2-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2948357PMC
January 2010

Sodium channel mutations and epilepsy: association and causation.

Exp Neurol 2010 Nov 13;226(1):8-10. Epub 2010 Aug 13.

UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S00144886100029
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http://dx.doi.org/10.1016/j.expneurol.2010.08.008DOI Listing
November 2010

Molecular characterisation of post-bio-electrosprayed human brain astrocytoma cells.

Analyst 2010 Oct 6;135(10):2600-12. Epub 2010 Aug 6.

Flow Cytometry Core Facility, Camelia Botnar Laboratories, UCL Institute of Child Health/Great Ormond Street Hospital for Children, 30 Guilford Street, London, WC1N 1EH, United Kingdom.

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http://dx.doi.org/10.1039/c0an00213eDOI Listing
October 2010

Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling.

Trends Neurosci 2010 May 11;33(5):211-9. Epub 2010 Mar 11.

Reta Lila Weston Laboratories and Department of Molecular Neuroscience, Institute of Neurology, University College London, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1016/j.tins.2010.02.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4684264PMC
May 2010

Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy.

J Physiol 2010 Jun 15;588(Pt 11):1905-13. Epub 2010 Feb 15.

MRC Centre for Neuromuscular Diseases, Department of Molecular Neuroscience, University College London, Institute of Neurology, London WC1N 3BG, UK.

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http://dx.doi.org/10.1113/jphysiol.2009.186437DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2901979PMC
June 2010

Episodic ataxia type 1 mutations differentially affect neuronal excitability and transmitter release.

Dis Model Mech 2009 Nov-Dec;2(11-12):612-9. Epub 2009 Sep 24.

Department of Clinical and Experimental Epilepsy, Department of Molecular Neuroscience and MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1242/dmm.003582DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2773728PMC
February 2010

Sodium channelopathy of peripheral nerve: tightening the genotype-phenotype relationship.

Brain 2009 Jul 8;132(Pt 7):1690-2. Epub 2009 May 8.

UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.

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http://dx.doi.org/10.1093/brain/awp120DOI Listing
July 2009

A self-activating intrinsic brake on bursting in CA3 neurons.

J Physiol 2009 Mar;587(Pt 6):1143-4

Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK.

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http://dx.doi.org/10.1113/jphysiol.2009.170027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2674986PMC
March 2009

Non-genomic effects of sex hormones on CLC-1 may contribute to gender differences in myotonia congenita.

Neuromuscul Disord 2008 Nov 23;18(11):869-72. Epub 2008 Sep 23.

MRC Centre for Neuromuscular Disease, UCL Institute of Neurology and National Hospital for Neurology, Queen Square, London WC1N 3BG, UK.

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http://linkinghub.elsevier.com/retrieve/pii/S096089660800572
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http://dx.doi.org/10.1016/j.nmd.2008.07.004DOI Listing
November 2008

Episodic ataxia type 1: a neuronal potassium channelopathy.

Neurotherapeutics 2007 Apr;4(2):258-66

Department of Molecular Neuroscience, Centre for Neuromuscular Disease, Queen Square, London WC1N 3BG, United Kingdom.

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http://dx.doi.org/10.1016/j.nurt.2007.01.010DOI Listing
April 2007

Epileptogenesis is associated with enhanced glutamatergic transmission in the perforant path.

J Neurophysiol 2006 Feb 9;95(2):1213-20. Epub 2005 Nov 9.

Institute of Neurology, University College London, London, United Kingdom.

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http://jn.physiology.org/content/jn/95/2/1213.full.pdf
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http://jn.physiology.org/cgi/doi/10.1152/jn.00680.2005
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http://dx.doi.org/10.1152/jn.00680.2005DOI Listing
February 2006

Antagonism of ATP responses at P2X receptor subtypes by the pH indicator dye, Phenol red.

Br J Pharmacol 2005 Jun;145(3):313-22

University College London, Department of Physiology, Royal Free Campus, Rowland Hill Street, Hampstead, London NW3 2PF, UK.

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http://dx.doi.org/10.1038/sj.bjp.0706187DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1576146PMC
June 2005

Studies of NMDA receptor function and stoichiometry with truncated and tandem subunits.

J Neurosci 2003 Feb;23(4):1151-8

Pharmacology Department, University College London, London WC1E 6BT, United Kingdom.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6742241PMC
February 2003