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List of works by Stephanie Schorge

A commonSCN1Asplice-site polymorphism modifies the effect of carbamazepine on cortical excitability-A pharmacogenetic transcranial magnetic stimulation study

scientific article published on 13 January 2014

A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1

scientific article

A patient with episodic ataxia and paramyotonia congenita due to mutations in KCNA1 and SCN4A.

scientific article published on September 2009

A self-activating intrinsic brake on bursting in CA3 neurons

scientific article published in March 2009

A systems approach delivers a functional microRNA catalog and expanded targets for seizure suppression in temporal lobe epilepsy

scientific article published on 24 June 2020

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

scientific article

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

scientific article

Alternative splicing of a short cassette exon in alpha1B generates functionally distinct N-type calcium channels in central and peripheral neurons

scientific article published in July 1999

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

scientific article

Antagonizing Increased miR-135a Levels at the Chronic Stage of Experimental TLE Reduces Spontaneous Recurrent Seizures

scientific article published on 23 April 2019

Calcium channel activation stabilizes a neuronal calcium channel mRNA

scientific article published in September 1999

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

scientific article

Chemical-genetic attenuation of focal neocortical seizures

scientific article

Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions.

scientific article published on 11 October 2007

Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1.

scientific article

Conservation of alternative splicing in sodium channels reveals evolutionary focus on release from inactivation and structural insights into gating

scientific article published on 15 June 2017

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

scientific article published on 18 January 2010

Epilepsy Gene Therapy Using an Engineered Potassium Channel

article

Epileptogenesis is associated with enhanced glutamatergic transmission in the perforant path

scientific article

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

scientific article published on 24 September 2009

Episodic ataxia type 1: a neuronal potassium channelopathy

scientific article published on April 2007

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

scientific article

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

scientific article

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

scientific article

Gene therapy in status epilepticus

scientific article

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

scientific article published on 15 February 2010

Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin

scientific article

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

scientific article

Inherited erythermalgia moves a sodium channel into focus

scientific article published on 13 November 2006

Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing.

scientific article

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

scientific article published on 29 January 2016

Maximum likelihood fitting of single channel NMDA activity with a mechanism composed of independent dimers of subunits

scientific article published on 13 October 2005

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

scientific article

Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

scientific article

New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics.

scientific article published on 14 November 2012

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

scientific article published on 23 September 2008

Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins

scientific article

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

scientific article published on 30 August 2013

Olanzapine: A potent agonist at the hM4D(Gi) DREADD amenable to clinical translation of chemogenetics

scientific article published on 17 April 2019

Optogenetic and potassium channel gene therapy in a rodent model of focal neocortical epilepsy

scientific article

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

scientific article published on 13 September 2017

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

scientific article published on 13 September 2017

Progressive myoclonus epilepsy KCNC1 variant causes a developmental dendritopathy

scientific article published on 18 March 2021

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

article

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

scientific article published on 14 December 2018

Sodium channel mutations and epilepsy: Association and causation

scientific article published on 13 August 2010

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

scientific article published on 8 May 2009

Splice Variants of NaV1.7 Sodium Channels Have Distinct β Subunit-Dependent Biophysical Properties ⬇️

scientific article published on July 24, 2012

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

scientific article published on February 2003

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

scientific article

Tracks through the genome to physiological events

scientific article

Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis

scientific article

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