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D-Index & Metrics

Neuroscience

D-Index
38
Citations
5233
World Ranking
8596
National Ranking
639

Overview

Stephanie Schorge is affiliated with University College London in the United Kingdom. Their research covers a range of topics in biochemistry, genetics, molecular biology, neuroscience, and medicine, with a focus on molecular biology, genetics, and cellular and molecular neuroscience as primary subfields.

The scientist's work spans several key topics including:

  • Neuroscience and Neuropharmacology Research
  • Ion channel regulation and function
  • Genetics and Neurodevelopmental Disorders
  • CRISPR and Genetic Engineering
  • Epilepsy research and treatment
  • Genomics and Rare Diseases
  • RNA and protein synthesis mechanisms

Stephanie Schorge has published extensively across multiple venues. Frequent publication outlets include:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Brain
  • Epilepsia
  • Journal of Neurochemistry
  • Science

Representative recent papers include:

  • In vivo CRISPRa decreases seizures and rescues cognitive deficits in a rodent model of epilepsy, 2020, Brain
  • Gene variant effects across sodium channelopathies predict function and guide precision therapy, 2022, Brain
  • Biological concepts in human sodium channel epilepsies and their relevance in clinical practice, 2020, Epilepsia
  • On-demand cell-autonomous gene therapy for brain circuit disorders, 2022, Science
  • Recent advances in gene therapy for neurodevelopmental disorders with epilepsy, 2020, Journal of Neurochemistry

Collaboration is a notable aspect of their work, with frequent co-authors including:

  • Gabriele Lignani
  • Dimitri M. Kullmann
  • Andreas Brunklaus
  • Dennis Lal
  • Eduardo Pérez-Palma

Best Publications

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

    Sarah K. Tate;Chantal Depondt;Sanjay M. Sisodiya;Gianpiero L. Cavalleri

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

    Stephanie Schorge;David Colquhoun

  • Optogenetic and Potassium Channel Gene Therapy in a Rodent Model of Focal Neocortical Epilepsy

    Robert C. Wykes;Joost H. Heeroma;Laura Mantoan;Kaiyu Zheng

  • MicroRNAs in epilepsy: pathophysiology and clinical utility

    David C Henshall;Hajo M Hamer;R Jeroen Pasterkamp;David B Goldstein

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

    E. Matthews;R. Labrum;M. G. Sweeney;R. Sud

  • dCas9-Based Scn1a Gene Activation Restores Inhibitory Interneuron Excitability and Attenuates Seizures in Dravet Syndrome Mice.

    Gaia Colasante;Gabriele Lignani;Simone Brusco;Claudia Di Berardino

  • Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

    Tommy Stödberg;Amy McTague;Arnaud J. Ruiz;Hiromi Hirata

  • Chemical–genetic attenuation of focal neocortical seizures

    Dennis Kätzel;Elizabeth Nicholson;Stephanie Schorge;Matthew C. Walker

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

    D. Fialho;S. Schorge;U. Pucovska;N. P. Davies

  • In vivo CRISPRa decreases seizures and rescues cognitive deficits in a rodent model of epilepsy.

    Gaia Colasante;Yichen Qiu;Luca Massimino;Claudia Di Berardino

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

    Zhixin Lin;Yingxin Lin;Stephanie Schorge;Jennifer Qian Pan

  • Gene therapy in epilepsy—is it time for clinical trials?

    Dimitri M. Kullmann;Stephanie Schorge;Matthew C. Walker;Robert C. Wykes

  • Episodic ataxia type 1: A neuronal potassium channelopathy

    Sanjeev Rajakulendran;Stephanie Schorge;Dimitri M. Kullmann;Michael G. Hanna

  • On-demand cell-autonomous gene therapy for brain circuit disorders

    Unknown

  • Gene variant effects across sodium channelopathies predict function and guide precision therapy

    Unknown

  • Epilepsy Gene Therapy Using an Engineered Potassium Channel.

    Albert Snowball;Elodie Chabrol;Robert C. Wykes;Tawfeeq Shekh-Ahmad

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

    Sanjeev Rajakulendran;Tracey D Graves;Robyn W Labrum;Dimitrios Kotzadimitriou

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

    Stephanie Schorge;Sergio Elenes;David Colquhoun

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

    Patrick May;Simon Girard;Merle Harrer;Dheeraj R Bobbili

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

    Stephanie Schorge;Joyce van de Leemput;Joyce van de Leemput;Andrew Singleton;Andrew Singleton;Henry Houlden

  • Biological concepts in human sodium channel epilepsies and their relevance in clinical practice.

    Andreas Brunklaus;Juanjiangmeng Du;Felix Steckler;Ismael I. Ghanty

  • Potent Anti-seizure Effects of Locked Nucleic Acid Antagomirs Targeting miR-134 in Multiple Mouse and Rat Models of Epilepsy

    Cristina R. Reschke;Luiz F. Almeida Silva;Braxton A. Norwood;Braxton A. Norwood;Ketharini Senthilkumar;Ketharini Senthilkumar

  • Epileptogenesis Is Associated With Enhanced Glutamatergic Transmission in the Perforant Path

    Annalisa Scimemi;Stephanie Schorge;Dimitri M. Kullmann;Matthew C. Walker

Frequent Co-Authors

Dimitri M. Kullmann
Dimitri M. Kullmann University College London
Matthew C. Walker
Matthew C. Walker University College London
Felix Rosenow
Felix Rosenow Goethe University Frankfurt
Sameer M. Zuberi
Sameer M. Zuberi University of Glasgow
David C. Henshall
David C. Henshall Royal College of Surgeons in Ireland
Tobias Engel
Tobias Engel Royal College of Surgeons in Ireland
Susanne Knake
Susanne Knake Philipp University of Marburg
Karl Martin Klein
Karl Martin Klein University of Calgary
Nicholas W. Wood
Nicholas W. Wood University College London
Gianpiero L. Cavalleri
Gianpiero L. Cavalleri Royal College of Surgeons in Ireland

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