Stéphanie Schorge

The paper introduces a miR-sensing plasmid system that dynamically controls ion channel expression using microRNA signals, demonstrating its ability to modulate transgene activity in neuro2A cells.

This paper demonstrates the use of AAV9 vectors to deliver AntagoNATs targeting a natural antisense transcript in a DS mouse model, improving survival and reducing seizures.

The paper introduces Gene Portals, a framework that integrates clinical, functional, and structural data for rare disease variant classification, demonstrating its utility across five gene-specific portals.

This study demonstrates that AAV-delivered RNA editing machinery improves survival and reduces seizures in a mouse model of Dravet Syndrome.

The paper develops a Bayesian framework to integrate functional evidence into clinical variant interpretation for epilepsy-related ion channel genes, identifying key parameters that influence pathogenicity classification.

The paper uses molecular dynamics simulations to analyze four SCN2A variants, revealing how they affect channel structure and function, with R937C being the most unstable.

This paper evaluates gene therapy using Kv1.1 potassium channel overexpression in a mouse model of FCD, showing reduced seizures but no improvement in cognitive or behavioral issues.

This study investigates spinal cord pathology in a Dravet Syndrome mouse model and identifies dysregulated pathways related to monooxygenase activity, fatty acid ligases, and lactate transporters.

The paper identifies biological properties of ion channel residues associated with variant pathogenicity and links them to clinical phenotypes and functional assays.

The paper shows that alternative splicing of sodium channels Nav1.1 and Nav1.2 has cell-type-specific effects on neuronal activity and firing properties.

This study uses CRISPRa to increase Kv1.1 expression in mouse hippocampal neurons, reducing seizures and cognitive deficits in a temporal lobe epilepsy model.

The paper identifies distinct hippocampal and prefrontal cortex circuit dysfunctions in DS mouse models linked to specific regions of human chromosome 21.

The paper identifies functional miRNAs and their targets involved in seizure suppression in temporal lobe epilepsy using animal models and functional screens.

The paper identifies olanzapine as a potent and full agonist for the hM4D(Gi) DREADD, enabling clinical translation of chemogenetics for CNS diseases.

This paper develops a non-integrating lentiviral gene therapy for refractory focal epilepsy, showing reduced seizure frequency in a rat model.

This paper characterizes a rat model of focal neocortical epilepsy induced by tetanus toxin injection, showing seizure clustering, circadian variation, and predictive seizure counts.