Stephanie Schorge

UCL Queen Square Institute Of Neurology
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 57 publications

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.

Journal: medRxiv : the preprint server for health sciences

Published: March 13, 2026

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.

Journal: medRxiv : the preprint server for health sciences

Published: March 13, 2026

MicroRNA-sensing plasmid system for dynamic control of functional ion channel expression.

MicroRNA-sensing plasmid system for dynamic control of functional ion channel expression.

Journal: Molecular therapy. Nucleic acids

Published: January 19, 2026

AAV9-mediated targeting of natural antisense transcript as a novel treatment for Dravet syndrome.

AAV9-mediated targeting of natural antisense transcript as a novel treatment for Dravet syndrome.

Journal: Molecular therapy. Nucleic acids

Published: May 14, 2025

Deciphering temporal gene expression dynamics during epilepsy development using a rat model of focal neocortical epilepsy.

Deciphering temporal gene expression dynamics during epilepsy development using a rat model of focal neocortical epilepsy.

Journal: Epilepsia

Published: June 30, 2024

Anti-seizure gene therapy for focal cortical dysplasia.

Anti-seizure gene therapy for focal cortical dysplasia.

Journal: Brain : a journal of neurology

Published: May 11, 2023

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

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

Journal: Science (New York, N.Y.)

Published: November 15, 2022

Central Nervous System Gene Therapy: Present Developments and Emerging Trends Accelerating Industry-Academia Pathways.

Central Nervous System Gene Therapy: Present Developments and Emerging Trends Accelerating Industry-Academia Pathways.

Journal: Human gene therapy

Published: September 07, 2022

Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes.

Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes.

Journal: Brain : a journal of neurology

Published: February 22, 2022

Gene Therapy for Neurological Disease: State of the Art and Opportunities for Next-generation Approaches.

Gene Therapy for Neurological Disease: State of the Art and Opportunities for Next-generation Approaches.

Journal: Neuroscience

Published: December 08, 2021

BICS01 Mediates Reversible Anti-seizure Effects in Brain Slice Models of Epilepsy.

BICS01 Mediates Reversible Anti-seizure Effects in Brain Slice Models of Epilepsy.

Journal: Frontiers in neurology

Published: October 08, 2021

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

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

Journal: Brain : a journal of neurology

Published: July 05, 2021

Showing 1-12 of 57

Last Updated: 09/26/2026