About Stephanie Schorge

Background:

Stephanie Schorge, the current Pewterers Fellow, is the day-to-day supervisor of the Channelopathies group. Her current research revolves around a long-standing interest in the importance of RNA processing, particularly alternative splicing, in regulating ion channel biophysics. The work has evolved from a PhD project, supervised by Diane Lipscombe at Brown University, focused on the role of RNA processing (splicing and regulated degradation) in controlling calcium channel function. She spent five years investigating the subunit composition and single channel gating behavior of NMDA receptors with David Colquhoun, in the Pharmacology Department at UCL. After moving to IoN she worked with Dimitri Kullmann for a year on characterizing mutations in potassium and sodium channels linked to human neurological disorders. This position led to her current fellowship investigating how alternative splicing regulates sodium channel function in humans.

email Stephanie or phone: +44 (0) 845 155 5000 x724208

Publications:

Fialho D, Kullmann DM, Hanna MG (In Press) Non-Genomic effects of sex hormones on CLC-1 may contribute to gender differences in myotonia congenita Neuromuscular Disorders, doi:10.1016/j.nmd.2008.07.004

Fialho D, Schorge S, Pucovska U, Davies NP, Labrum R, Haworth A, Stanley E, Sud R, Wakeling W, Davis MB, Kullmann DM, and Hanna MG (2007) “Chloride Channel Myotonia: Exon 8 hot-spot for dominant-negative interactions” Brain 130: 3265-74

Rajakulendram S, Schorge S, Kullmann DM, Hanna M. (2007) “Episodic ataxia Type 1 –A Neuronal Potassium Channelopathy” Neurotherapeutics Apr;4(2):258-66.

Schorge S, & Pt áček LJ. (2006)“Inherited erythermalgia moves a sodium channel into focus” Neurology. 67(9):1538-9.

Scimemi A, Schorge S, Kullmann DM, Walker MC. (2006) “Epileptogenesis is associated with enhanced glutamatergic transmission in the perforant path” Journal of Neurophysiology 95(2):1213-20.

Schorge S, Elenes S, Colquhoun D. (2005) “Maximum likelihood fitting of single channel NMDA activity with a mechanism composed of independent dimers of subunits” Journal of Physiology 569(Pt 2):395-418.

Tate SK, Depondt C, Sisodiya SM, Cavalleri GL, Schorge S, Soranzo N, Thom M, Sen A, Shorvon SD, Sander JW, Wood NW, Goldstein DB. (2005) “Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin.” Proceedings of the National Academy of Science U S A. 102(15):5507-12.

King BF, Liu M, Townsend-Nicholson A, Pfister J, Padilla F, Ford AP, Gever JR, Oglesby IB, Schorge S, Burnstock G. (2005) “Antagonism of ATP responses at P2X receptor subtypes by the pH indicator dye, Phenol red” British Journal of Pharmacology 145(3):313-22.

Schorge S & Colquhoun D (2003) “Studies of NMDA Receptor Function and Stoichiometry with Truncated and Tandem Subunits” Journal of Neuroscience 23(4):1151–1158

Schorge S, Gupta S, Lin Z, McEnery MW & Lipscombe D (1999) “Calcium channel activation stabilizes a neuronal calcium channel mRNA” Nature Neuroscience 2:785-90

Lin Z, Lin Y, Schorge S, Pan JQ, Beierlein M & Lipscombe D (1999) “Alternative splicing of a short cassette exon in alpha-1B generates functionally distinct N-type calcium channels in central and peripheral neurons” Journal of Neuroscience 19:5322-31

Lin Z, Haus (Schorge) S, Edgerton J & Lipscombe D (1997) “Identification of functionally distinct forms of the N-type Ca channel in rat sympathetic ganglia and brain” Neuron 10:153-166

Book Chapters

Dimitri M. Kullmann & Stephanie Schorge “Voltage-gated ion channels: molecular biology and role of mutations in epilepsy” Invited book chapter for Epilepsy: A Comprehensive Textbook, Second Edition. Jerome Engel and Timothy A. Pedley, Editors.

Invited Seminars

July 2008 Symposia Speaker: 6 th FENS Forum, Geneva
January 2008 Neurophysiology Departmental seminar, NHNN, London
October 2007 GSK Seminar Lectures on channelopathies at IoN: Series organizer
October 2007 Newcastle Neurology Academic Meeting
June 2007 Mouse Neurological and Behavioural Forum, Oxford University
May 2007 Department of Neuroscience, Brown University, USA
February 2007 Scottish Epilepsy Group, Dundee
January 2007 EPICURE SP6 Kickoff meeting, Venice
March 2003 Department of Neuroscience at the University of Edinburgh
October 2002 Pharmacology Department University College London

Pending invited talks and symposia

September 2008 Workshop presenter: 8 th European Congress on Epileptology, Berlin

Education

1999 Brown University PhD Division of Biology and Medicine, Department of Neuroscience

Dissertation: “Variants of the Ca channel α1B subunit mRNA: Their distribution and function in the mammalian nervous system.”

1994 Yale University BSc Biology and Religious Studies

Personal Information Born May 1972 (USA), dual nationality UK and USA, female, single

Holiday in Kenya, before the elections...