Stephanie Schorge
#99,135
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Stephanie Schorge's AcademicInfluence.com Rankings
Stephanie Schorgeengineering Degrees
Engineering
#9004
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#10656
Historical Rank
Biomedical Engineering
#920
World Rank
#937
Historical Rank
Applied Physics
#3417
World Rank
#3515
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Engineering
Stephanie Schorge's Degrees
- PhD Biomedical Engineering Stanford University
- Masters Biomedical Engineering Stanford University
Why Is Stephanie Schorge Influential?
(Suggest an Edit or Addition)According to Wikipedia, Stephanie Schorge is a Professor of Neuroscience in the Department of Neuroscience, Physiology and Pharmacology at University College London. She is known for her research into mutations that cause neurological diseases.
Stephanie Schorge's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin. (2005) (355)
- Studies of NMDA Receptor Function and Stoichiometry with Truncated and Tandem Subunits (2003) (233)
- Optogenetic and Potassium Channel Gene Therapy in a Rodent Model of Focal Neocortical Epilepsy (2012) (230)
- MicroRNAs in epilepsy: pathophysiology and clinical utility (2016) (170)
- Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures (2015) (142)
- Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis (2009) (125)
- Chemical–genetic attenuation of focal neocortical seizures (2014) (124)
- Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions. (2007) (112)
- dCas9-Based Scn1a Gene Activation Restores Inhibitory Interneuron Excitability and Attenuates Seizures in Dravet Syndrome Mice. (2020) (98)
- Maximum likelihood fitting of single channel NMDA activity with a mechanism composed of independent dimers of subunits (2005) (93)
- Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling (2010) (81)
- Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy (2010) (78)
- Episodic ataxia type 1: A neuronal potassium channelopathy (2007) (78)
- Gene therapy in epilepsy—is it time for clinical trials? (2014) (67)
- Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study (2018) (60)
- Potent Anti-seizure Effects of Locked Nucleic Acid Antagomirs Targeting miR-134 in Multiple Mouse and Rat Models of Epilepsy (2016) (59)
- Epileptogenesis is associated with enhanced glutamatergic transmission in the perforant path. (2006) (57)
- Epilepsy Gene Therapy Using an Engineered Potassium Channel (2019) (55)
- Insights from cerebellar transcriptomic analysis into the pathogenesis of ataxia. (2014) (54)
- In vivo CRISPRa decreases seizures and rescues cognitive deficits in a rodent model of epilepsy (2018) (52)
- Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing (2009) (51)
- Biological concepts in human sodium channel epilepsies and their relevance in clinical practice (2020) (49)
- A common SCN1A splice‐site polymorphism modifies the effect of carbamazepine on cortical excitability—A pharmacogenetic transcranial magnetic stimulation study (2014) (49)
- Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1 (2013) (45)
- Biochemical autoregulatory gene therapy for focal epilepsy (2018) (42)
- Episodic ataxia type 1 mutations differentially affect neuronal excitability and transmitter release (2009) (39)
- Alternative Splicing Modulates Inactivation of Type 1 Voltage-gated Sodium Channels by Toggling an Amino Acid in the First S3-S4 Linker* (2011) (36)
- Non-genomic effects of sex hormones on CLC-1 may contribute to gender differences in myotonia congenita (2008) (34)
- Calcium channel activation stabilizes a neuronal calcium channel mRNA (1999) (34)
- SCN1A variants from bench to bedside—improved clinical prediction from functional characterization (2019) (33)
- Olanzapine: A potent agonist at the hM4D(Gi) DREADD amenable to clinical translation of chemogenetics (2019) (33)
- Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins (2010) (32)
- A new explanation for recessive myotonia congenita (2012) (32)
- A systems approach delivers a functional microRNA catalog and expanded targets for seizure suppression in temporal lobe epilepsy (2019) (27)
- Antagonism of ATP responses at P2X receptor subtypes by the pH indicator dye, Phenol red (2005) (25)
- Altered Hippocampal-Prefrontal Neural Dynamics in Mouse Models of Down Syndrome (2019) (24)
- Personalized translational epilepsy research — Novel approaches and future perspectives Part I: Clinical and network analysis approaches (2017) (24)
- Antagonizing Increased miR-135a Levels at the Chronic Stage of Experimental TLE Reduces Spontaneous Recurrent Seizures (2019) (22)
- Recent advances in gene therapy for neurodevelopmental disorders with epilepsy (2020) (22)
- Molecular characterisation of post-bio-electrosprayed human brain astrocytoma cells. (2010) (20)
- Splice Variants of NaV1.7 Sodium Channels Have Distinct β Subunit-Dependent Biophysical Properties (2012) (20)
- Changing channels in pain and epilepsy: Exploiting ion channel gene therapy for disorders of neuronal hyperexcitability (2015) (20)
- Dysfunction of the CaV2.1 calcium channel in cerebellar ataxias (2010) (18)
- Personalized translational epilepsy research — Novel approaches and future perspectives Part II: Experimental and translational approaches (2017) (16)
- Spider toxin inhibits gating pore currents underlying periodic paralysis (2018) (16)
- Gene therapy in status epilepticus (2013) (15)
- Spared CA1 pyramidal neuron function and hippocampal performance following antisense knockdown of microRNA‐134 (2018) (13)
- Semiology, clustering, periodicity and natural history of seizures in an experimental occipital cortical epilepsy model (2018) (12)
- The P/Q channel in human disease: untangling the genetics and physiology (2012) (11)
- Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation (2019) (11)
- A PATIENT WITH EPISODIC ATAXIA AND PARAMYOTONIA CONGENITA DUE TO MUTATIONS IN KCNA1 AND SCN4A (2009) (10)
- Gene variant effects across sodium channelopathies predict function and guide precision therapy (2022) (9)
- New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics (2012) (9)
- Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism (2021) (9)
- Tackling Obstacles for Gene Therapy Targeting Neurons: Disrupting Perineural Nets with Hyaluronidase Improves Transduction (2013) (9)
- Gene Therapy for Neurological Disease: State of the Art and Opportunities for Next-generation Approaches (2022) (9)
- Conservation of alternative splicing in sodium channels reveals evolutionary focus on release from inactivation and structural insights into gating (2017) (9)
- Nongenomic actions of progesterone and 17β‐estradiol on the chloride conductance of skeletal muscle (2013) (8)
- On-demand cell-autonomous gene therapy for brain circuit disorders (2022) (8)
- Activity Clamp Provides Insights into Paradoxical Effects of the Anti-Seizure Drug Carbamazepine (2017) (8)
- Inherited erythermalgia moves a sodium channel into focus (2006) (6)
- From treatment to cure: stopping seizures, preventing seizures, and reducing brain propensity to seize. (2014) (4)
- Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes (2022) (4)
- Progressive myoclonus epilepsy KCNC1 variant causes a developmental dendritopathy (2021) (4)
- A novel synaptopathy‐defective synaptic vesicle protein trafficking in the mutant CHMP2B mouse model of frontotemporal dementia (2021) (3)
- Channelopathies go above and beyond the channels (2018) (3)
- Sodium channelopathy of peripheral nerve: tightening the genotype-phenotype relationship. (2009) (2)
- Translating genetic and functional data into clinical practice: a series of 223 families with myotonia (2021) (2)
- CRISPRa-mediated Kcna1 upregulation decreases neuronal excitability and suppresses seizures in a rodent model of temporal lobe epilepsy (2018) (2)
- Olanzapine: a full and potent agonist at the hM4D(Gi) DREADD amenable to clinical translation of chemogenetics (2018) (2)
- A self‐activating intrinsic brake on bursting in CA3 neurons (2009) (2)
- Alternative splicing tunes sodium channels to support channel- and neuron-specific effects (2020) (2)
- Lentiviral expression of GAD67 and CCK promoter‐driven opsins to target interneurons in vitro and in vivo (2016) (2)
- Tracks through the genome to physiological events (2015) (2)
- Sodium channel mutations and epilepsy: Association and causation (2010) (2)
- Semiology, clustering, periodicity and natural history of seizures in an experimental visual cortical epilepsy model (2018) (1)
- Locus Heterogeneity in Epilepsy of Infancy with Migrating Focal Seizures (2016) (1)
- The voltage-gated channelopathies as a paradigm for studying epilepsy-causing genes (2018) (1)
- Epilepsy gene therapy using non-integrating lentiviral delivery of an engineered potassium channel gene (2018) (1)
- Ago2-seq identifies new microRNA targets for seizure control (2019) (1)
- Epilepsy Optogenetic and Potassium Channel Gene Therapy in a Rodent Model of (2012) (1)
- OPTOGENETIC INHIBITION OF EPILEPTIC ACTIVITY (2011) (1)
- LENTIVIRAL-MEDIATED OVEREXPRESSION OF THE POTASSIUM CHANNEL KV1.1 AS A TREATMENT FOR FOCAL NEOCORTICAL EPILEPSY (2011) (1)
- The Functional Effect of R1648H, a Sodium Channel Mutation that Causes Generalized Epilepsy with Febrile Seizures Plus in Splice Variants of SCN1A (2010) (0)
- Episodic ataxia type 1 in identical twins: genotype-phenotype correlation (2008) (0)
- Variation in CACNA1A associated with episodic ataxia and epilepsy (2009) (0)
- CNS gene therapy: present developments and emerging trends accelerating industry-academia pathways. (2022) (0)
- P.230 Large scale validation of functional expression of ClC-1 variants in genetic counselling of myotonia congenital (2017) (0)
- Altered Hippocampal-Prefrontal Neural Dynamics in models of Down Syndrome (2019) (0)
- PAW31 Clinical and genetic spectrum of the episodic ataxias: the UK perspective (2010) (0)
- A novel voltage-sensing mutation in Kv1.1 is associated with episodic ataxia type 1 (2007) (0)
- A clinical, genetic and electrophysiological study of a new UK episodic ataxia type 1 (EA1) pedigree (2007) (0)
- BICS01 Mediates Reversible Anti-seizure Effects in Brain Slice Models of Epilepsy (2022) (0)
- Rat Dentate Gyrus Mediated Facilitation of High-Frequency Input in the - Kindling Induces Transient NMDA Receptor (2015) (0)
- FUNCTIONAL ANALYSIS OF CLC-1 VARIANTS INFORMS GENETIC COUNSELLING FOR MYOTONIA CONGENITA (2016) (0)
- A clinical, genetic and electrophysiological study of a new UK episodic ataxia type 1 pedigree (2007) (0)
- Episodic ataxia type 1 in identical twins (2008) (0)
- Erratum: Changing channels in pain and epilepsy: Exploiting ion channel gene therapy for disorders of neuronal hyperexcitability (FEBS Lett. (2015) 589 (1620-1634) doi: 10.1016/j.febslet.2015.05.004) (2015) (0)
- P46 Functional investigation of a novel mutation causing a new phenotype for the KCNA1 gene (2014) (0)
- Isoform of human calcium channel type N and uses thereof (1999) (0)
- Functional insights from genetic channelopathies (2014) (0)
- Voltage-gated ion channels: molecular biology and role of mutations in epilepsy (2008) (0)
- Ataxia and CACNA1A: Episodic or Progressive? (2014) (0)
- From mutation to cure: Shaker potassium channels and epilepsy (2016) (0)
- D.P.2.09 Non-genomic effects of sex hormones on ClC-1 may contribute to gender differences in myotonia congenita (2008) (0)
- Title : MicroRNAs in epilepsy : pathophysiology and clinical utility (2016) (0)
- Glutamatergic Transmission in the Perforant Path Epileptogenesis Is Associated With Enhanced (2015) (0)
- Argonaute-2 sequencing of rodent status epilepticus models identifies multiple microRNA targets for seizure suppression (2019) (0)
- Rare coding variants in GABAA receptor encoding genes in genetic generalized epilepsies: an exome-based case-control study (2018) (0)
- Biochemical autoregulatory gene therapy for focal epilepsy (2018) (0)
- Allosteric Metabotropic Glutamate Receptor 7 Antagonists In Vitro Pharmacological Characterization of Novel Isoxazolopyridone Derivatives as (2010) (0)
- by Toggling an Amino Acid in the First S3-S4 Linker Alternative Splicing Modulates Inactivation of Type 1 Voltage-gated Sodium Channels (2015) (0)
- Micro RNA 134 knockdown delays epileptiform activity in ex vivo brain slices (2016) (0)
- Gene Therapy for Infantile Parkinsonism (2019) (0)
- NMJ+C05 Improving genetic diagnosis and counselling for patients with myotoniacongenita (2017) (0)
- G.P.101 New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics (2012) (0)
- Gene therapy in experimental focal neocortical epilepsy (2013) (0)
- D.P.2.12 Episodic ataxia type 1 in identical twins (2008) (0)
- The role of the brain P/Q-type calcium channel in human epilepsy (2006) (0)
- Episodic ataxia type 1 in twins: Genotype-phenotype correlation (2008) (0)
- Optogenetic Treatment Approaches for Focal Neocortical Epilepsy (2012) (0)
- Erratum to “Changing channels in pain and epilepsy: Exploiting ion channel gene therapy for disorders of neuronal hyperexcitability” [FEBS Lett. 589 (2015) 1620–1634] (2015) (0)
- P36 Progesterone reduces and shifts the voltage dependence of the skeletal muscle chloride conductance (2012) (0)
- Anti-seizure Gene Therapy for Focal Cortical Dysplasia (2023) (0)
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What Schools Are Affiliated With Stephanie Schorge?
Stephanie Schorge is affiliated with the following schools:
